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Dong, X.* ; Zhong, T.Y.* ; Xu, T. ; Xia, Y.T.* ; Li, B.Q.* ; Li, C.* ; Yuan, L.Y.* ; Ding, G.H.* ; Li, Y.X.*

Evaluating coverage of exons by HapMap SNPs.

Genomics 101, 20-23 (2013)
Publ. Version/Full Text Volltext DOI PMC
Open Access Gold
Genome-wide association (GWA) studies are currently one of the most powerful tools in identifying disease-associated genes or variants. In typical GWA studies, single-nucleotide polymorphisms (SNPs) are often used as genetic makers. Therefore, it is critical to estimate the percentage of genetic variations which can be covered by SNPs through linkage disequilibrium (LD). In this study, we use the concept of haplotype blocks to evaluate the coverage of five SNP sets including the HapMap and four commercial arrays, for every exon in the human genome. We show that although some Chips can reach similar coverage as the HapMap, only about 50% of exons are completely covered by haplotype blocks of HapMap SNPs. We suggest further high-resolution genotyping methods are required, to provide adequate genome-wide power for identifying variants.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association Study ; Coverage ; Hapmap ; Single-nucleotide Polymorphism; Genome-wide Association ; Single-nucleotide Polymorphisms ; Linkage Disequilibrium ; Haplotype Blocks ; Recombination Rates ; Common Diseases ; Loci ; Population ; Sequence ; Capture
Language english
Publication Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 0888-7543
e-ISSN 1089-8646
Journal Genomics
Quellenangaben Volume: 101, Issue: 1, Pages: 20-23 Article Number: , Supplement: ,
Publisher Elsevier
Reviewing status Peer reviewed
Institute(s) Research Unit Molecular Epidemiology (AME)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504200-003
PubMed ID 23000193
DOI 10.1016/j.ygeno.2012.09.003
WOS ID WOS:000313385800003
Scopus ID 84871694533
Erfassungsdatum 2013-03-15
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