Structural variation in the human genome

作者: Lars Feuk , Andrew R. Carson , Stephen W. Scherer

DOI: 10.1038/NRG1767

关键词:

摘要: The first wave of information from the analysis human genome revealed SNPs to be main source genetic and phenotypic variation. However, advent genome-scanning technologies has now uncovered an unexpectedly large extent what we term 'structural variation' in genome. This comprises microscopic and, more commonly, submicroscopic variants, which include deletions, duplications large-scale copy-number variants - collectively termed or polymorphisms as well insertions, inversions translocations. Rapidly accumulating evidence indicates that structural can comprise millions nucleotides heterogeneity within every genome, are likely make important contribution diversity disease susceptibility.

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