Genome-wide scans using archived neonatal dried blood spot samples
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Genome-wide scans using archived neonatal dried blood spot samples. / Hollegaard, Mads V.; Grauholm, Jonas; Børglum, Anders; Nyegaard, Mette; Nørgaard-Pedersen, Bent; Ørntoft, Torben; Mortensen, Preben B.; Wiuf, Carsten; Mors, Ole; Didriksen, Michael; Thorsen, Poul; Hougaard, David M.
In: BMC Genomics, Vol. 10, 297, 04.07.2009.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Genome-wide scans using archived neonatal dried blood spot samples
AU - Hollegaard, Mads V.
AU - Grauholm, Jonas
AU - Børglum, Anders
AU - Nyegaard, Mette
AU - Nørgaard-Pedersen, Bent
AU - Ørntoft, Torben
AU - Mortensen, Preben B.
AU - Wiuf, Carsten
AU - Mors, Ole
AU - Didriksen, Michael
AU - Thorsen, Poul
AU - Hougaard, David M.
PY - 2009/7/4
Y1 - 2009/7/4
N2 - 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. Conclusion: 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.
AB - 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. Conclusion: 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.
UR - http://www.scopus.com/inward/record.url?scp=67749098061&partnerID=8YFLogxK
U2 - 10.1186/1471-2164-10-297
DO - 10.1186/1471-2164-10-297
M3 - Journal article
C2 - 19575812
AN - SCOPUS:67749098061
VL - 10
JO - BMC Genomics
JF - BMC Genomics
SN - 1471-2164
M1 - 297
ER -
ID: 203896617