An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis | Zendy

Lachlan Coin | Zendy; Dandan Cao | Zendy; Jingjing Ren | Zendy; Xianbo Zuo | Zendy; Liangdan Sun | Zendy; Sen Yang | Zendy; Xuejun Zhang | Zendy; Yong Cui | Zendy; Yingrui Li | Zendy; Xin Jin | Zendy; Jun Wang | Zendy

Open Access

An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

Author(s) -

Lachlan Coin,

Dandan Cao,

Jingjing Ren,

Xianbo Zuo,

Liangdan Sun,

Sen Yang,

Xuejun Zhang,

Yong Cui,

Yingrui Li,

Xin Jin,

Jun Wang

Publication year - 2012

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts379

Subject(s) - copy number variation , exome sequencing , genotyping , genetics , exome , biology , locus (genetics) , genomics , genotype , genome wide association study , disease , computational biology , genome , medicine , single nucleotide polymorphism , gene , mutation

Despite the prevalence of copy number variation (CNV) in the human genome, only a handful of confirmed associations have been reported between common CNVs and complex disease. This may be partially attributed to the difficulty in accurately genotyping CNVs in large cohorts using array-based technologies. Exome sequencing is now widely being applied to case-control cohorts and presents an exciting opportunity to look for common CNVs associated with disease.

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