Challenges and standards in integrating surveys of structural variation
Nature GeneticsPublished 27 June 2007Open access
Stephen W. Scherer, Charles Lee, Ewan Birney, David Altshuler, Evan E. Eichler, Nigel P. Carter
Citations407
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TL;DR
The challenges in characterizing and documenting genomic structural variants are considered, and recommendations for standards to be adopted are derived to ensure the accurate presentation of this form of genetic variation to facilitate ongoing research.
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.
Keywords
Biochemistry, Genetics and Molecular Biology
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