RNA sequencing of archived neonatal dried blood spots
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank an...
Ausführliche Beschreibung
Autor*in: |
Jonas Bybjerg-Grauholm [verfasserIn] Christian Munch Hagen [verfasserIn] Sok Kean Khoo [verfasserIn] Maria Louise Johannesen [verfasserIn] Christine Søholm Hansen [verfasserIn] Marie Bækvad-Hansen [verfasserIn] Michael Christiansen [verfasserIn] David Michael Hougaard [verfasserIn] Mads V. Hollegaard [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2017 |
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Übergeordnetes Werk: |
In: Molecular Genetics and Metabolism Reports - Elsevier, 2015, 10(2017), C, Seite 33-37 |
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Übergeordnetes Werk: |
volume:10 ; year:2017 ; number:C ; pages:33-37 |
Links: |
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DOI / URN: |
10.1016/j.ymgmr.2016.12.004 |
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Katalog-ID: |
DOAJ031936938 |
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520 | |a Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. | ||
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10.1016/j.ymgmr.2016.12.004 doi (DE-627)DOAJ031936938 (DE-599)DOAJ64ef153753f04dc285b13cdbc66f16ba DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Jonas Bybjerg-Grauholm verfasserin aut RNA sequencing of archived neonatal dried blood spots 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General) Christian Munch Hagen verfasserin aut Sok Kean Khoo verfasserin aut Maria Louise Johannesen verfasserin aut Christine Søholm Hansen verfasserin aut Marie Bækvad-Hansen verfasserin aut Michael Christiansen verfasserin aut David Michael Hougaard verfasserin aut Mads V. Hollegaard verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 10(2017), C, Seite 33-37 (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:10 year:2017 number:C pages:33-37 https://doi.org/10.1016/j.ymgmr.2016.12.004 kostenfrei https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426916301069 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 10 2017 C 33-37 |
spelling |
10.1016/j.ymgmr.2016.12.004 doi (DE-627)DOAJ031936938 (DE-599)DOAJ64ef153753f04dc285b13cdbc66f16ba DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Jonas Bybjerg-Grauholm verfasserin aut RNA sequencing of archived neonatal dried blood spots 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General) Christian Munch Hagen verfasserin aut Sok Kean Khoo verfasserin aut Maria Louise Johannesen verfasserin aut Christine Søholm Hansen verfasserin aut Marie Bækvad-Hansen verfasserin aut Michael Christiansen verfasserin aut David Michael Hougaard verfasserin aut Mads V. Hollegaard verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 10(2017), C, Seite 33-37 (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:10 year:2017 number:C pages:33-37 https://doi.org/10.1016/j.ymgmr.2016.12.004 kostenfrei https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426916301069 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 10 2017 C 33-37 |
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10.1016/j.ymgmr.2016.12.004 doi (DE-627)DOAJ031936938 (DE-599)DOAJ64ef153753f04dc285b13cdbc66f16ba DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Jonas Bybjerg-Grauholm verfasserin aut RNA sequencing of archived neonatal dried blood spots 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General) Christian Munch Hagen verfasserin aut Sok Kean Khoo verfasserin aut Maria Louise Johannesen verfasserin aut Christine Søholm Hansen verfasserin aut Marie Bækvad-Hansen verfasserin aut Michael Christiansen verfasserin aut David Michael Hougaard verfasserin aut Mads V. Hollegaard verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 10(2017), C, Seite 33-37 (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:10 year:2017 number:C pages:33-37 https://doi.org/10.1016/j.ymgmr.2016.12.004 kostenfrei https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426916301069 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 10 2017 C 33-37 |
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10.1016/j.ymgmr.2016.12.004 doi (DE-627)DOAJ031936938 (DE-599)DOAJ64ef153753f04dc285b13cdbc66f16ba DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Jonas Bybjerg-Grauholm verfasserin aut RNA sequencing of archived neonatal dried blood spots 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General) Christian Munch Hagen verfasserin aut Sok Kean Khoo verfasserin aut Maria Louise Johannesen verfasserin aut Christine Søholm Hansen verfasserin aut Marie Bækvad-Hansen verfasserin aut Michael Christiansen verfasserin aut David Michael Hougaard verfasserin aut Mads V. Hollegaard verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 10(2017), C, Seite 33-37 (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:10 year:2017 number:C pages:33-37 https://doi.org/10.1016/j.ymgmr.2016.12.004 kostenfrei https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426916301069 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 10 2017 C 33-37 |
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10.1016/j.ymgmr.2016.12.004 doi (DE-627)DOAJ031936938 (DE-599)DOAJ64ef153753f04dc285b13cdbc66f16ba DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Jonas Bybjerg-Grauholm verfasserin aut RNA sequencing of archived neonatal dried blood spots 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General) Christian Munch Hagen verfasserin aut Sok Kean Khoo verfasserin aut Maria Louise Johannesen verfasserin aut Christine Søholm Hansen verfasserin aut Marie Bækvad-Hansen verfasserin aut Michael Christiansen verfasserin aut David Michael Hougaard verfasserin aut Mads V. Hollegaard verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 10(2017), C, Seite 33-37 (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:10 year:2017 number:C pages:33-37 https://doi.org/10.1016/j.ymgmr.2016.12.004 kostenfrei https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426916301069 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 10 2017 C 33-37 |
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Jonas Bybjerg-Grauholm @@aut@@ Christian Munch Hagen @@aut@@ Sok Kean Khoo @@aut@@ Maria Louise Johannesen @@aut@@ Christine Søholm Hansen @@aut@@ Marie Bækvad-Hansen @@aut@@ Michael Christiansen @@aut@@ David Michael Hougaard @@aut@@ Mads V. Hollegaard @@aut@@ |
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Jonas Bybjerg-Grauholm misc R5-920 misc QH301-705.5 misc Gene expression misc RNA-seq misc Limited material misc Neonatal Screening misc Guthrie Cards misc Dried blood spots misc Medicine (General) misc Biology (General) RNA sequencing of archived neonatal dried blood spots |
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R5-920 QH301-705.5 RNA sequencing of archived neonatal dried blood spots Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots |
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RNA sequencing of archived neonatal dried blood spots |
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Jonas Bybjerg-Grauholm Christian Munch Hagen Sok Kean Khoo Maria Louise Johannesen Christine Søholm Hansen Marie Bækvad-Hansen Michael Christiansen David Michael Hougaard Mads V. Hollegaard |
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rna sequencing of archived neonatal dried blood spots |
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RNA sequencing of archived neonatal dried blood spots |
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Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. |
abstractGer |
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. |
abstract_unstemmed |
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq). RNA-seq was performed on five males and five females. Sequencing results have an average of <30 million reads per sample. 26,799 annotated features can be identified with 64% features detectable without fragments per kilobase of transcript per million mapped reads (FPKM) cutoff; number of detectable features dropped to 18% when FPKM ≥ 1. Sex can be discriminated using blood-based sex-specific gene set identified by the Genotype-Tissue Expression consortium. Here, we demonstrate the feasibility to acquire biologically-relevant gene expression from DBS using RNA-seq which provide a new avenue to investigate perinatal diseases in a high throughput manner. |
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RNA sequencing of archived neonatal dried blood spots |
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