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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.

Abstract:

Short insertions and deletions (indels) are the second most abundant form of human genetic variation, but our understanding of their origins and functional effects lags behind that of other types of variants. Using population-scale sequencing, we have identified a high-quality set of 1.6 million indels from 179 individuals representing three diverse human populations. We show that rates of indel mutagenesis are highly heterogeneous, with 43%-48% of indels occurring in 4.03% of the genome, whe...

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Publication status:
Published

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Publisher copy:
10.1101/gr.148718.112

Authors


Montgomery, SB More by this author
Kvikstad, E More by this author
Albers, CA More by this author
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Journal:
Genome research
Volume:
23
Issue:
5
Pages:
749-761
Publication date:
2013-05-05
DOI:
EISSN:
1549-5469
ISSN:
1088-9051
URN:
uuid:6ab973f5-98af-4153-9f39-db785967ff9e
Source identifiers:
387772
Local pid:
pubs:387772

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