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Recommendations of the 2006 Human Variome Project meeting

Abstract:

Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrate...

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Publisher copy:
10.1038/ng2024

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Journal:
Nature Genetics
Volume:
39
Issue:
4
Pages:
433-436
Publication date:
2007-04-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
178491
Language:
English
Pubs id:
pubs:178491
UUID:
uuid:ac90752b-56e0-452e-a004-ea828ca69052
Local pid:
pubs:178491
Deposit date:
2013-11-16

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