Towards a comprehensive structural variation map of an individual human genome
Open Access
- 1 January 2010
- journal article
- Published by Springer Science and Business Media LLC in Genome Biology
- Vol. 11 (5), R52
- https://doi.org/10.1186/gb-2010-11-5-r52
Abstract
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 analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions.Keywords
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