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Journal article

Mapping copy number variation by population-scale genome sequencing.

Abstract:

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map...

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Publication status:
Published

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Publisher copy:
10.1038/nature09708

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Journal:
Nature
Volume:
470
Issue:
7332
Pages:
59-65
Publication date:
2011-02-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:7a18565c-793a-4447-b6c4-e66087fb9e3a
Source identifiers:
118113
Local pid:
pubs:118113

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