Genome structural variation discovery and genotyping

Genome structural variation discovery and genotyping: "

Genome structural variation discovery and genotyping

Nature Reviews Genetics 12, 363 (2011).
doi:10.1038/nrg2958

Authors: Can Alkan, Bradley P. Coe & Evan E. Eichler

Comparisons of human genomes show that more base pairs are altered as a result of structural variation — including copy number variation — than as a result of point mutations. Here we review advances and challenges in the discovery and genotyping of structural variation. The

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