ArticlePloS one2016
High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Using dried blood spot samples from a trio for linked-read whole-exome sequencing.European journal of human genetics : EJHG · 2019Trial
- Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.Annals of medicine · 2026Article
- Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening.International journal of neonatal screening · 2025Article
- Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation.Research square · 2025Article
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.International journal of neonatal screening · 2024Article
- CannSeek? Yes we Can! An open-source single nucleotide polymorphism database and analysis portal forGigaByte (Hong Kong, China) · 2024Article
- Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.International journal of neonatal screening · 2023Article
- Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.NPJ genomic medicine · 2023Article
- The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.Brain communications · 2023Article
- Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.Nature genetics · 2022Article
- A method to correct for the influence of bovine serum albumin-associated vitamin D metabolites in protein extracts from neonatal dried blood spots.BMC research notes · 2022Article
- Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.Orphanet journal of rare diseases · 2022Article
- Suitability of Dried Blood Spots for Accelerating Veterinary Biobank Collections and Identifying Metabolomics Biomarkers With Minimal Resources.Frontiers in veterinary science · 2022Article
- Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.International journal of neonatal screening · 2021Article
- Pharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample.Translational psychiatry · 2021Article
- Ethical and Psychosocial Implications of Genomic Newborn Screening.International journal of neonatal screening · 2021Article
- A pediatric perspective on genomics and prevention in the twenty-first century.Pediatric research · 2020Review
- Novel mutations inCold Spring Harbor molecular case studies · 2019Article
- Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Neurologic impairment in Wilson disease.Annals of translational medicine · 2019Review
Corrections and comments
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic diseases. DNA extracted from neonatal DBSs can be amplified to obtain micrograms of an otherwise limited resource, referred to as whole-genome amplified DNA (wgaDNA). Here we investigate the robustness of exome sequencing of wgaDNA of neonatal DBS samples. We conducted three pilot studies of seven, eight and seven subjects, respectively. For each subject we analysed a neonatal DBS sample and corresponding adult whole-blood (WB) reference sample. Different DNA sample types were prepared for each of the subjects. Pilot 1: wgaDNA of 2x3.2mm neonatal DBSs (DBS_2x3.2) and raw DNA extract of the WB reference sample (WB_ref). Pilot 2: DBS_2x3.2, WB_ref and a WB_ref replica sharing DNA extract with the WB_ref sample. Pilot 3: DBS_2x3.2, WB_ref, wgaDNA of 2x1.6 mm neonatal DBSs and wgaDNA of the WB reference sample. Following sequencing and data analysis, we compared pairwise variant calls to obtain a measure of similarity--the concordance rate. Concordance rates were slightly lower when comparing DBS vs WB sample types than for any two WB sample types of the same subject before filtering of the variant calls. The overall concordance rates were dependent on the variant type, with SNPs performing best. Post-filtering, the comparisons of DBS vs WB and WB vs WB sample types yielded similar concordance rates, with values close to 100%. WgaDNA of neonatal DBS samples performs with great accuracy and efficiency in exome sequencing. The wgaDNA performed similarly to matched high-quality reference--whole-blood DNA--based on concordance rates calculated from variant calls. No differences were observed substituting 2x3.2 with 2x1.6 mm discs, allowing for additional reduction of sample material in future projects.
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