Article
Towards a comprehensive structural variation map of an individual human genome.
Genome biology - 1 Jan 2010
Pang Andy W, MacDonald Jeffrey R, Pinto Dalila, Wei John, Rafiq Muhammad A, Conrad Donald F, Park Hansoo, Hurles Matthew E, Lee Charles, Venter J Craig, Kirkness Ewen F, Levy Samuel, Feuk Lars, Scherer Stephen W
Abstract excerpt
BACKGROUND: Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less comprehensive. It is still unclear to what extent a typical genome differs from the reference assembly, and the...
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