title: 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.
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Jonas
authors.initials: J
authors.lastname: Bybjerg-Grauholm
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Christian Munch
authors.initials: CM
authors.lastname: Hagen
authors.affiliation: Department of Cell and Molecular Biology, Grand Valley State University, Grand Rapids, MI 49503, USA.
authors.forename: Sok Kean
authors.initials: SK
authors.lastname: Khoo
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Maria Louise
authors.initials: ML
authors.lastname: Johannesen
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Christine Søholm
authors.initials: CS
authors.lastname: Hansen
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Marie
authors.initials: M
authors.lastname: Bækvad-Hansen
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark; Department of Biomedicine, University of Copenhagen, Copenhagen N DK-2200, Denmark.
authors.forename: Michael
authors.initials: M
authors.lastname: Christiansen
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: David Michael
authors.initials: DM
authors.lastname: Hougaard
authors.affiliation: Department of Congenital Disorders, Statens Serum Institut, Copenhagen DK-2300, Denmark; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark.
authors.forename: Mads V
authors.initials: MV
authors.lastname: Hollegaard
keywords: DBS, Dried blood spots; DNSB, Danish Neonatal Screening Biobank; Dried blood spots; GTEx, Genotype-Tissue Expression consortium; Gene expression; Guthrie Cards; Limited material; Neonatal Screening; RNA-seq