Genome assembly comparison identifies structural variants in the human genome

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 1 , 2 and intermediate-sized variants (ISVs) 3 . However, only a small proport...

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Veröffentlicht in:	Nature genetics 2006-12, Vol.38 (12), p.1413-1418
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Animal Genetics and Genomics Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Comparative analysis Deoxyribonucleic acid DNA DNA - genetics Fundamental and applied biological sciences. Psychology Gene Function Genetic diversity Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genomics Heterogeneity Human body Human Genetics Human genome Humans Identification and classification In Situ Hybridization, Fluorescence letter Physiological aspects Polymerase Chain Reaction Sequence Alignment Single nucleotide polymorphisms
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Zusammenfassung:	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 1 , 2 and intermediate-sized variants (ISVs) 3 . However, only a small proportion of total heterogeneity is characterized, and little is known of the characteristics of most smaller-sized (
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1921