Article
Genome assembly comparison identifies structural variants in the human genome.
Nature genetics - 1 Dec 2006
Khaja Razi, Zhang Junjun, MacDonald Jeffrey R, He Yongshu, Joseph-George Ann M, Wei John, Rafiq Muhammad A, Qian Cheng, Shago Mary, Pantano Lorena, Aburatani Hiroyuki, Jones Keith, Redon Richard, Hurles Matthew, Armengol Lluis, Estivill Xavier, Mural Richard J, Lee Charles, Scherer Stephen W, Feuk Lars
Abstract excerpt
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to identify SNPs and intermediate-sized variants (ISVs). However, only a small proportion of total heterogeneity is characterized, and little is known of the characteristics of most smaller-sized (<50 kb)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.