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...
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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]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots

Übergeordnetes Werk:	In: Molecular Genetics and Metabolism Reports - Elsevier, 2015, 10(2017), C, Seite 33-37
Übergeordnetes Werk:	volume:10 ; year:2017 ; number:C ; pages:33-37

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1016/j.ymgmr.2016.12.004

Katalog-ID:	DOAJ031936938

Internformat


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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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650		4	\|a RNA-seq
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650		4	\|a Neonatal Screening
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700	0		\|a Sok Kean Khoo \|e verfasserin \|4 aut
700	0		\|a Maria Louise Johannesen \|e verfasserin \|4 aut
700	0		\|a Christine Søholm Hansen \|e verfasserin \|4 aut
700	0		\|a Marie Bækvad-Hansen \|e verfasserin \|4 aut
700	0		\|a Michael Christiansen \|e verfasserin \|4 aut
700	0		\|a David Michael Hougaard \|e verfasserin \|4 aut
700	0		\|a Mads V. Hollegaard \|e verfasserin \|4 aut
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912			\|a GBV_ILN_293
912			\|a GBV_ILN_602
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publishDate	2017
allfields	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
allfields_unstemmed	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
allfieldsGer	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
allfieldsSound	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
language	English
source	In Molecular Genetics and Metabolism Reports 10(2017), C, Seite 33-37 volume:10 year:2017 number:C pages:33-37
sourceStr	In Molecular Genetics and Metabolism Reports 10(2017), C, Seite 33-37 volume:10 year:2017 number:C pages:33-37
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Gene expression RNA-seq Limited material Neonatal Screening Guthrie Cards Dried blood spots Medicine (General) Biology (General)
isfreeaccess_bool	true
container_title	Molecular Genetics and Metabolism Reports
authorswithroles_txt_mv	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@@
publishDateDaySort_date	2017-01-01T00:00:00Z
hierarchy_top_id	826105033
id	DOAJ031936938
language_de	englisch
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callnumber-first	R - Medicine
author	Jonas Bybjerg-Grauholm
spellingShingle	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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topic_title	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
topic	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)
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title	RNA sequencing of archived neonatal dried blood spots
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title_full	RNA sequencing of archived neonatal dried blood spots
author_sort	Jonas Bybjerg-Grauholm
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title_sort	rna sequencing of archived neonatal dried blood spots
callnumber	R5-920
title_auth	RNA sequencing of archived neonatal dried blood spots
abstract	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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title_short	RNA sequencing of archived neonatal dried blood spots
url	https://doi.org/10.1016/j.ymgmr.2016.12.004 https://doaj.org/article/64ef153753f04dc285b13cdbc66f16ba http://www.sciencedirect.com/science/article/pii/S2214426916301069 https://doaj.org/toc/2214-4269
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up_date	2024-07-03T23:12:11.321Z
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RNA sequencing of archived neonatal dried blood spots

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