Chapter 6: Structural variation and medical genomics.

Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have rece...

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Bibliographic Details
Main Author: Benjamin J Raphael
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS Computational Biology
Online Access:https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002821&type=printable
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