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 SNPs1,2 and intermediate-sized variants (ISVs)3. However, only a small proportion o...

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Bibliografiske detaljer
Main Authors: 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: Artigo
Sprog:Inglês
Udgivet: 2006
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2674632/
https://ncbi.nlm.nih.gov/pubmed/17115057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1921
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