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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)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter 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
ISSN (print) / ISBN 0888-7543
e-ISSN 1089-8646
Zeitschrift Genomics
Quellenangaben Band: 101, Heft: 1, Seiten: 20-23 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Research Unit Molecular Epidemiology (AME)