title: Genome-wide scans using archived neonatal dried blood spot samples.
abstract: BACKGROUND
  Identification of disease susceptible genes requires access to DNA from numerous well-characterised subjects. Archived residual dried blood spot samples from national newborn screening programs may provide DNA from entire populations and medical registries the corresponding clinical information. The amount of DNA available in these samples is however rarely sufficient for reliable genome-wide scans, and whole-genome amplification may thus be necessary. This study assess the quality of DNA obtained from different amplification protocols by evaluating fidelity and robustness of the genotyping of 610,000 single nucleotide polymorphisms, using the Illumina Infinium HD Human610-Quad BeadChip. Whole-genome amplified DNA from 24 neonatal dried blood spot samples stored between 15 to 25 years was tested, and high-quality genomic DNA from 8 of the same individuals was used as reference.
  
  
  RESULTS
  Using 3.2 mm disks from dried blood spot samples the optimal DNA-extraction and amplification protocol resulted in call-rates between 99.15% - 99.73% (mean 99.56%, N = 16), and conflicts with reference DNA in only three per 10,000 genotype calls.
  
  
  CONCLUSIONS
  Whole-genome amplified DNA from archived neonatal dried blood spot samples can be used for reliable genome-wide scans and is a cost-efficient alternative to collecting new samples.
authors: Section of Neonatal Screening and Hormones, Statens Serum Institut, Copenhagen, Denmark. mvh@ssi.dk
authors: Mads V
authors: MV
authors: Hollegaard
authors: Jonas
authors: J
authors: Grauholm
authors: Anders
authors: A
authors: Børglum
authors: Mette
authors: M
authors: Nyegaard
authors: Bent
authors: B
authors: Nørgaard-Pedersen
authors: Torben
authors: T
authors: Ørntoft
authors: Preben B
authors: PB
authors: Mortensen
authors: Carsten
authors: C
authors: Wiuf
authors: Ole
authors: O
authors: Mors
authors: Michael
authors: M
authors: Didriksen
authors: Poul
authors: P
authors: Thorsen
authors: David M
authors: DM
authors: Hougaard
mesh_terms: D001774:Blood Chemical Analysis / Q000379:methods*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*; D013048:Specimen Handling
chemical_list: D004247:DNA