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Genome structural variation discovery and genotyping

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 recent application of ma...

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Bibliographic Details
Main Authors: Alkan, Can, Coe, Bradley P., Eichler, Evan E.
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4108431/
https://ncbi.nlm.nih.gov/pubmed/21358748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrg2958
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