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PMID: 17597783 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Challenges and standards in integrating surveys of structural variation.

Nature genetics ·Vol. 39 ·No. 7 Suppl ·2007-07-00 ·Pages S7-15

Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L

Abstract

There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its quality or describing identified features. This risks becoming a rampant problem, in particular with respect to surveys of copy number variation and their application to disease studies. Here, we consider the challenges in characterizing and documenting genomic structural variants. From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research.

MeSH Terms
Databases, Genetic/standards Gene Dosage Genetic Variation Genome, Human Genomics/standards,trends Humans Quality Control Terminology as Topic
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Scherer Stephen W
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14-701, Ontario M5G 1L7, Canada. [email protected]
Lee Charles
Birney Ewan
Altshuler David M
Eichler Evan E
Carter Nigel P
Hurles Matthew E
Feuk Lars
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/ng2093
Email
[email protected]
Published
2007-07-00
Pages
S7-15
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC2698291
Subset
IM
Grants
Wellcome Trust · 077008 · United Kingdom
Wellcome Trust · 077014 · United Kingdom
External Links
PubMed source DOI: 10.1038/ng2093 PMC Full Text View journal details
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