Common deletion polymorphisms in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-01

AUTHORS

Steven A McCarroll, Tracy N Hadnott, George H Perry, Pardis C Sabeti, Michael C Zody, Jeffrey C Barrett, Stephanie Dallaire, Stacey B Gabriel, Charles Lee, Mark J Daly, David M Altshuler, The International HapMap Consortium

ABSTRACT

The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb in size; 278 of these variants were observed in multiple, unrelated individuals, 120 in the homozygous state. The coding exons of ten expressed genes were found to be commonly deleted, including multiple genes with roles in sex steroid metabolism, olfaction and drug response. These common deletion polymorphisms typically represent ancestral mutations that are in linkage disequilibrium with nearby SNPs, meaning that their association to disease can often be evaluated in the course of SNP-based whole-genome association studies. More... »

PAGES

86-92

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1696

DOI

http://dx.doi.org/10.1038/ng1696

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002416433

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16468122


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