Diversity of human copy number variation and multicopy genes

Sudmant, Peter H., Kitzman, Jacob O., Antonacci, Francesca, Alkan, Can, Malig, Maika, Tsalenko, Anya, Sampas, Nick, Bruhn, Laurakay, Shendure, Jay, Eichler, Evan E., 1000 Genomes Project and Li, Yingrui (2010) Diversity of human copy number variation and multicopy genes. Science, 330 6004: 641-646. doi:10.1126/science.1197005

Author Sudmant, Peter H.
Kitzman, Jacob O.
Antonacci, Francesca
Alkan, Can
Malig, Maika
Tsalenko, Anya
Sampas, Nick
Bruhn, Laurakay
Shendure, Jay
Eichler, Evan E.
1000 Genomes Project
Li, Yingrui
Title Diversity of human copy number variation and multicopy genes
Journal name Science   Check publisher's open access policy
ISSN 0036-8075
Publication date 2010-10-29
Year available 1997
Sub-type Article (original research)
DOI 10.1126/science.1197005
Open Access Status Not yet assessed
Volume 330
Issue 6004
Start page 641
End page 646
Total pages 6
Place of publication Washington, DC, United States
Publisher American Association for the Advancement of Science
Language eng
Abstract Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes ∼1000 genes accessible to genetic studies of disease association.
Keyword Agriculture, Dairy & Animal Science
Endocrinology & Metabolism
Endocrinology & Metabolism
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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