TY - JOUR
T1 - Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source
AU - Hollegaard, Mads Vilhelm
AU - Grove, Jakob
AU - Grauholm, Jonas
AU - Kreiner-Møller, Eskil
AU - Bønnelykke, Klaus
AU - Nørgaard, Mette Lone
AU - Benfield, Thomas
AU - Nørgaard-Pedersen, Bent
AU - Mortensen, Preben Bo
AU - Mors, Ole
AU - Sørensen, Henrik
AU - Harboe, Zitta B
AU - Børglum, Anders
AU - Demontis, Ditte
AU - Ørntoft, Torben Falck
AU - Bisgaard, Hans
AU - Hougaard, David M
PY - 2011
Y1 - 2011
N2 - The search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined with clinical information from medical registries, DBS samples could provide a rich source for productive research. However, the amounts of DNA which can be extracted from these precious samples are minute and may be prohibitive for numerous genotypings. Previously, we demonstrated that DBS DNA can be whole-genome amplified and used for reliable genetic analysis on different platforms, including genome-wide scanning arrays. However, it remains unclear whether this approach is workable on a large sample scale. We examined the robustness of using DBS samples for whole-genome amplification following genome-wide scanning, using arrays from Illumina and Affymetrix.
AB - The search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined with clinical information from medical registries, DBS samples could provide a rich source for productive research. However, the amounts of DNA which can be extracted from these precious samples are minute and may be prohibitive for numerous genotypings. Previously, we demonstrated that DBS DNA can be whole-genome amplified and used for reliable genetic analysis on different platforms, including genome-wide scanning arrays. However, it remains unclear whether this approach is workable on a large sample scale. We examined the robustness of using DBS samples for whole-genome amplification following genome-wide scanning, using arrays from Illumina and Affymetrix.
KW - Blood Specimen Collection
KW - DNA
KW - Denmark
KW - Female
KW - Genetic Predisposition to Disease
KW - Genetic Testing
KW - Genome-Wide Association Study
KW - Humans
KW - Infant, Newborn
KW - Male
KW - Polymorphism, Single Nucleotide
KW - Sequence Analysis, DNA
KW - Specimen Handling
U2 - 10.1186/1471-2156-12-58
DO - 10.1186/1471-2156-12-58
M3 - Journal article
C2 - 21726430
SN - 1471-2156
VL - 12
SP - 58
JO - BMC Genetics
JF - BMC Genetics
ER -