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Article

Challenges and standards in integrating surveys of structural variation.

Nature genetics - 1 Jul 2007

Scherer Stephen W, Lee Charles, Birney Ewan, Altshuler David M, Eichler Evan E, Carter Nigel P, Hurles Matthew E, Feuk Lars

Abstract excerpt

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...

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PMID: 17597783
DOI: 10.1038/ng2093
PMCID: PMC2698291

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Source receipt: pubmed, retrieved 7 Sept 2026.

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