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PMID: 21460062 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Natural genetic variation caused by small insertions and deletions in the human genome.

Genome research ·Vol. 21 ·No. 6 ·2011-06-00 ·Pages 830-9

Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE

Abstract

Human genetic variation is expected to play a central role in personalized medicine. Yet only a fraction of the natural genetic variation that is harbored by humans has been discovered to date. Here we report almost 2 million small insertions and deletions (INDELs) that range from 1 bp to 10,000 bp in length in the genomes of 79 diverse humans. These variants include 819,363 small INDELs that map to human genes. Small INDELs frequently were found in the coding exons of these genes, and several lines of evidence indicate that such variation is a major determinant of human biological diversity. Microarray-based genotyping experiments revealed several interesting observations regarding the population genetics of small INDEL variation. For example, we found that many of our INDELs had high levels of linkage disequilibrium (LD) with both HapMap SNPs and with high-scoring SNPs from genome-wide association studies. Overall, our study indicates that small INDEL variation is likely to be a key factor underlying inherited traits and diseases in humans.

MeSH Terms
Genetic Variation Genome, Human/genetics Genomics/methods Genotype Humans INDEL Mutation/genetics Microarray Analysis Precision Medicine/methods
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Mills Ryan E
Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Pittard W Stephen
Mullaney Julienne M
Farooq Umar
Creasy Todd H
Mahurkar Anup A
Kemeza David M
Strassler Daniel S
Ponting Chris P
Webber Caleb
Devine Scott E
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1549-5469
DOI
10.1101/gr.115907.110
Published
2011-06-00
Epub
2011-00-01
Pages
830-9
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC3106316
Subset
IM
Grants
NHGRI NIH HHS · R01 HG002898 · United States
NHGRI NIH HHS · F32 HG004207 · United States
Medical Research Council · MC_UP_A320_1004 · United Kingdom
NHGRI NIH HHS · F32HG004207 · United States
Medical Research Council · MC_U137761446 · United Kingdom
NHGRI NIH HHS · R01HG002898 · United States
Databases
GEO
GSE27889
External Links
PubMed source DOI: 10.1101/gr.115907.110 PMC Full Text View journal details
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