Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast ca...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Nguyen-Dumont, T. [verfasserIn] Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2015transfer abstract |
|---|
| Schlagwörter: |
|---|
| Umfang: |
4 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems - Kroon, Frederieke J. ELSEVIER, 2014, methods in the biological sciences, San Diego, Calif |
|---|---|
| Übergeordnetes Werk: |
volume:470 ; year:2015 ; day:1 ; month:02 ; pages:48-51 ; extent:4 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ab.2014.10.010 |
|---|
| Katalog-ID: |
ELV039903710 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV039903710 | ||
| 003 | DE-627 | ||
| 005 | 20230625230233.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180603s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ab.2014.10.010 |2 doi | |
| 028 | 5 | 2 | |a GBVA2015019000030.pica |
| 035 | |a (DE-627)ELV039903710 | ||
| 035 | |a (ELSEVIER)S0003-2697(14)00492-8 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | |a 570 |a 540 | |
| 082 | 0 | 4 | |a 570 |q DE-600 |
| 082 | 0 | 4 | |a 540 |q DE-600 |
| 082 | 0 | 4 | |a 550 |q VZ |
| 082 | 0 | 4 | |a 333.7 |q VZ |
| 082 | 0 | 4 | |a 610 |q VZ |
| 084 | |a 15,3 |2 ssgn | ||
| 084 | |a PHARM |q DE-84 |2 fid | ||
| 084 | |a 44.40 |2 bkl | ||
| 100 | 1 | |a Nguyen-Dumont, T. |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| 264 | 1 | |c 2015transfer abstract | |
| 300 | |a 4 | ||
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. | ||
| 520 | |a Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. | ||
| 650 | 7 | |a Massively parallel sequencing |2 Elsevier | |
| 650 | 7 | |a Hi-Plex |2 Elsevier | |
| 650 | 7 | |a Dried blood spot |2 Elsevier | |
| 650 | 7 | |a Guthrie Card |2 Elsevier | |
| 650 | 7 | |a Targeted sequencing |2 Elsevier | |
| 650 | 7 | |a Archival DNA |2 Elsevier | |
| 700 | 1 | |a Mahmoodi, M. |4 oth | |
| 700 | 1 | |a Hammet, F. |4 oth | |
| 700 | 1 | |a Tran, T. |4 oth | |
| 700 | 1 | |a Tsimiklis, H. |4 oth | |
| 700 | 1 | |a Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab |4 oth | |
| 700 | 1 | |a Giles, G.G. |4 oth | |
| 700 | 1 | |a Hopper, J.L. |4 oth | |
| 700 | 1 | |a Australian Breast Cancer Family Registry |4 oth | |
| 700 | 1 | |a Southey, M.C. |4 oth | |
| 700 | 1 | |a Park, D.J. |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Elsevier |a Kroon, Frederieke J. ELSEVIER |t Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |d 2014 |d methods in the biological sciences |g San Diego, Calif |w (DE-627)ELV018040411 |
| 773 | 1 | 8 | |g volume:470 |g year:2015 |g day:1 |g month:02 |g pages:48-51 |g extent:4 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ab.2014.10.010 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 912 | |a FID-PHARM | ||
| 912 | |a SSG-OLC-PHA | ||
| 912 | |a SSG-OPC-PHA | ||
| 936 | b | k | |a 44.40 |j Pharmazie |j Pharmazeutika |q VZ |
| 951 | |a AR | ||
| 952 | |d 470 |j 2015 |b 1 |c 0201 |h 48-51 |g 4 | ||
| 953 | |2 045F |a 570 | ||
| author_variant |
t n d tnd |
|---|---|
| matchkey_str |
nguyendumonttmahmoodimhammetftranttsimik:2015----:ilxagtdeunigsfetvuigndrvdrmr |
| hierarchy_sort_str |
2015transfer abstract |
| bklnumber |
44.40 |
| publishDate |
2015 |
| allfields |
10.1016/j.ab.2014.10.010 doi GBVA2015019000030.pica (DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 DE-627 ger DE-627 rakwb eng 570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Nguyen-Dumont, T. verfasserin aut Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier Mahmoodi, M. oth Hammet, F. oth Tran, T. oth Tsimiklis, H. oth Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab oth Giles, G.G. oth Hopper, J.L. oth Australian Breast Cancer Family Registry oth Southey, M.C. oth Park, D.J. oth Enthalten in Elsevier Kroon, Frederieke J. ELSEVIER Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems 2014 methods in the biological sciences San Diego, Calif (DE-627)ELV018040411 volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 https://doi.org/10.1016/j.ab.2014.10.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA 44.40 Pharmazie Pharmazeutika VZ AR 470 2015 1 0201 48-51 4 045F 570 |
| spelling |
10.1016/j.ab.2014.10.010 doi GBVA2015019000030.pica (DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 DE-627 ger DE-627 rakwb eng 570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Nguyen-Dumont, T. verfasserin aut Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier Mahmoodi, M. oth Hammet, F. oth Tran, T. oth Tsimiklis, H. oth Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab oth Giles, G.G. oth Hopper, J.L. oth Australian Breast Cancer Family Registry oth Southey, M.C. oth Park, D.J. oth Enthalten in Elsevier Kroon, Frederieke J. ELSEVIER Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems 2014 methods in the biological sciences San Diego, Calif (DE-627)ELV018040411 volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 https://doi.org/10.1016/j.ab.2014.10.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA 44.40 Pharmazie Pharmazeutika VZ AR 470 2015 1 0201 48-51 4 045F 570 |
| allfields_unstemmed |
10.1016/j.ab.2014.10.010 doi GBVA2015019000030.pica (DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 DE-627 ger DE-627 rakwb eng 570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Nguyen-Dumont, T. verfasserin aut Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier Mahmoodi, M. oth Hammet, F. oth Tran, T. oth Tsimiklis, H. oth Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab oth Giles, G.G. oth Hopper, J.L. oth Australian Breast Cancer Family Registry oth Southey, M.C. oth Park, D.J. oth Enthalten in Elsevier Kroon, Frederieke J. ELSEVIER Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems 2014 methods in the biological sciences San Diego, Calif (DE-627)ELV018040411 volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 https://doi.org/10.1016/j.ab.2014.10.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA 44.40 Pharmazie Pharmazeutika VZ AR 470 2015 1 0201 48-51 4 045F 570 |
| allfieldsGer |
10.1016/j.ab.2014.10.010 doi GBVA2015019000030.pica (DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 DE-627 ger DE-627 rakwb eng 570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Nguyen-Dumont, T. verfasserin aut Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier Mahmoodi, M. oth Hammet, F. oth Tran, T. oth Tsimiklis, H. oth Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab oth Giles, G.G. oth Hopper, J.L. oth Australian Breast Cancer Family Registry oth Southey, M.C. oth Park, D.J. oth Enthalten in Elsevier Kroon, Frederieke J. ELSEVIER Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems 2014 methods in the biological sciences San Diego, Calif (DE-627)ELV018040411 volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 https://doi.org/10.1016/j.ab.2014.10.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA 44.40 Pharmazie Pharmazeutika VZ AR 470 2015 1 0201 48-51 4 045F 570 |
| allfieldsSound |
10.1016/j.ab.2014.10.010 doi GBVA2015019000030.pica (DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 DE-627 ger DE-627 rakwb eng 570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Nguyen-Dumont, T. verfasserin aut Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots 2015transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier Mahmoodi, M. oth Hammet, F. oth Tran, T. oth Tsimiklis, H. oth Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab oth Giles, G.G. oth Hopper, J.L. oth Australian Breast Cancer Family Registry oth Southey, M.C. oth Park, D.J. oth Enthalten in Elsevier Kroon, Frederieke J. ELSEVIER Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems 2014 methods in the biological sciences San Diego, Calif (DE-627)ELV018040411 volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 https://doi.org/10.1016/j.ab.2014.10.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA 44.40 Pharmazie Pharmazeutika VZ AR 470 2015 1 0201 48-51 4 045F 570 |
| language |
English |
| source |
Enthalten in Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems San Diego, Calif volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 |
| sourceStr |
Enthalten in Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems San Diego, Calif volume:470 year:2015 day:1 month:02 pages:48-51 extent:4 |
| format_phy_str_mv |
Article |
| bklname |
Pharmazie Pharmazeutika |
| institution |
findex.gbv.de |
| topic_facet |
Massively parallel sequencing Hi-Plex Dried blood spot Guthrie Card Targeted sequencing Archival DNA |
| dewey-raw |
570 |
| isfreeaccess_bool |
false |
| container_title |
Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |
| authorswithroles_txt_mv |
Nguyen-Dumont, T. @@aut@@ Mahmoodi, M. @@oth@@ Hammet, F. @@oth@@ Tran, T. @@oth@@ Tsimiklis, H. @@oth@@ Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab @@oth@@ Giles, G.G. @@oth@@ Hopper, J.L. @@oth@@ Australian Breast Cancer Family Registry @@oth@@ Southey, M.C. @@oth@@ Park, D.J. @@oth@@ |
| publishDateDaySort_date |
2015-01-01T00:00:00Z |
| hierarchy_top_id |
ELV018040411 |
| dewey-sort |
3570 |
| id |
ELV039903710 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV039903710</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230625230233.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ab.2014.10.010</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2015019000030.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV039903710</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0003-2697(14)00492-8</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">570</subfield><subfield code="a">540</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">570</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">550</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">333.7</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">15,3</subfield><subfield code="2">ssgn</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">PHARM</subfield><subfield code="q">DE-84</subfield><subfield code="2">fid</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.40</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Nguyen-Dumont, T.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015transfer abstract</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">4</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Massively parallel sequencing</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Hi-Plex</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Dried blood spot</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Guthrie Card</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Targeted sequencing</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Archival DNA</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mahmoodi, M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hammet, F.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tran, T.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsimiklis, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Giles, G.G.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hopper, J.L.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Australian Breast Cancer Family Registry</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Southey, M.C.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Park, D.J.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier</subfield><subfield code="a">Kroon, Frederieke J. ELSEVIER</subfield><subfield code="t">Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems</subfield><subfield code="d">2014</subfield><subfield code="d">methods in the biological sciences</subfield><subfield code="g">San Diego, Calif</subfield><subfield code="w">(DE-627)ELV018040411</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:470</subfield><subfield code="g">year:2015</subfield><subfield code="g">day:1</subfield><subfield code="g">month:02</subfield><subfield code="g">pages:48-51</subfield><subfield code="g">extent:4</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ab.2014.10.010</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">FID-PHARM</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OPC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.40</subfield><subfield code="j">Pharmazie</subfield><subfield code="j">Pharmazeutika</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">470</subfield><subfield code="j">2015</subfield><subfield code="b">1</subfield><subfield code="c">0201</subfield><subfield code="h">48-51</subfield><subfield code="g">4</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">570</subfield></datafield></record></collection>
|
| author |
Nguyen-Dumont, T. |
| spellingShingle |
Nguyen-Dumont, T. ddc 570 ddc 540 ddc 550 ddc 333.7 ddc 610 ssgn 15,3 fid PHARM bkl 44.40 Elsevier Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| authorStr |
Nguyen-Dumont, T. |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV018040411 |
| format |
electronic Article |
| dewey-ones |
570 - Life sciences; biology 540 - Chemistry & allied sciences 550 - Earth sciences 333 - Economics of land & energy 610 - Medicine & health |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA Elsevier |
| topic |
ddc 570 ddc 540 ddc 550 ddc 333.7 ddc 610 ssgn 15,3 fid PHARM bkl 44.40 Elsevier Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA |
| topic_unstemmed |
ddc 570 ddc 540 ddc 550 ddc 333.7 ddc 610 ssgn 15,3 fid PHARM bkl 44.40 Elsevier Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA |
| topic_browse |
ddc 570 ddc 540 ddc 550 ddc 333.7 ddc 610 ssgn 15,3 fid PHARM bkl 44.40 Elsevier Massively parallel sequencing Elsevier Hi-Plex Elsevier Dried blood spot Elsevier Guthrie Card Elsevier Targeted sequencing Elsevier Archival DNA |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
m m mm f h fh t t tt h t ht k c f c f r i f b c k kcfcfrifbck g g gg j h jh a b c f r abcfr m s ms d p dp |
| hierarchy_parent_title |
Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |
| hierarchy_parent_id |
ELV018040411 |
| dewey-tens |
570 - Life sciences; biology 540 - Chemistry 550 - Earth sciences & geology 330 - Economics 610 - Medicine & health |
| hierarchy_top_title |
Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV018040411 |
| title |
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| ctrlnum |
(DE-627)ELV039903710 (ELSEVIER)S0003-2697(14)00492-8 |
| title_full |
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| author_sort |
Nguyen-Dumont, T. |
| journal |
Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |
| journalStr |
Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
500 - Science 300 - Social sciences 600 - Technology |
| recordtype |
marc |
| publishDateSort |
2015 |
| contenttype_str_mv |
zzz |
| container_start_page |
48 |
| author_browse |
Nguyen-Dumont, T. |
| container_volume |
470 |
| physical |
4 |
| class |
570 540 570 DE-600 540 DE-600 550 VZ 333.7 VZ 610 VZ 15,3 ssgn PHARM DE-84 fid 44.40 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Nguyen-Dumont, T. |
| doi_str_mv |
10.1016/j.ab.2014.10.010 |
| dewey-full |
570 540 550 333.7 610 |
| title_sort |
hi-plex targeted sequencing is effective using dna derived from archival dried blood spots |
| title_auth |
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| abstract |
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. |
| abstractGer |
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. |
| abstract_unstemmed |
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-PHARM SSG-OLC-PHA SSG-OPC-PHA |
| title_short |
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots |
| url |
https://doi.org/10.1016/j.ab.2014.10.010 |
| remote_bool |
true |
| author2 |
Mahmoodi, M. Hammet, F. Tran, T. Tsimiklis, H. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab Giles, G.G. Hopper, J.L. Australian Breast Cancer Family Registry Southey, M.C. Park, D.J. |
| author2Str |
Mahmoodi, M. Hammet, F. Tran, T. Tsimiklis, H. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab Giles, G.G. Hopper, J.L. Australian Breast Cancer Family Registry Southey, M.C. Park, D.J. |
| ppnlink |
ELV018040411 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth oth oth oth oth oth oth oth |
| doi_str |
10.1016/j.ab.2014.10.010 |
| up_date |
2024-07-06T21:47:26.403Z |
| _version_ |
1803867858041569280 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV039903710</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230625230233.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ab.2014.10.010</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2015019000030.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV039903710</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0003-2697(14)00492-8</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">570</subfield><subfield code="a">540</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">570</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">550</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">333.7</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">15,3</subfield><subfield code="2">ssgn</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">PHARM</subfield><subfield code="q">DE-84</subfield><subfield code="2">fid</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.40</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Nguyen-Dumont, T.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015transfer abstract</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">4</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and no false-positive variant calls were yielded. Fully 98.13% of amplicons (5417/5520) were represented within 15-fold of the median coverage (2786 reads), and 99.98% of amplicons (5519/5520) were represented at a depth of 10 read-pairs or greater. With Hi-Plex, we show for the first time that a High-Plex amplicon-based massively parallel sequencing (MPS) system can be applied effectively to DNA prepared from dried blood spot archival specimens and, as such, can dramatically increase the scopes of both method and resource.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Massively parallel sequencing</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Hi-Plex</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Dried blood spot</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Guthrie Card</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Targeted sequencing</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Archival DNA</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mahmoodi, M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hammet, F.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tran, T.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tsimiklis, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer kConFab</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Giles, G.G.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hopper, J.L.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Australian Breast Cancer Family Registry</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Southey, M.C.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Park, D.J.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier</subfield><subfield code="a">Kroon, Frederieke J. ELSEVIER</subfield><subfield code="t">Informing policy to protect coastal coral reefs: Insight from a global review of reducing agricultural pollution to coastal ecosystems</subfield><subfield code="d">2014</subfield><subfield code="d">methods in the biological sciences</subfield><subfield code="g">San Diego, Calif</subfield><subfield code="w">(DE-627)ELV018040411</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:470</subfield><subfield code="g">year:2015</subfield><subfield code="g">day:1</subfield><subfield code="g">month:02</subfield><subfield code="g">pages:48-51</subfield><subfield code="g">extent:4</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ab.2014.10.010</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">FID-PHARM</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OPC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.40</subfield><subfield code="j">Pharmazie</subfield><subfield code="j">Pharmazeutika</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">470</subfield><subfield code="j">2015</subfield><subfield code="b">1</subfield><subfield code="c">0201</subfield><subfield code="h">48-51</subfield><subfield code="g">4</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">570</subfield></datafield></record></collection>
|
| score |
7.4003086 |