Joint detection of copy number variations in parent-offspring trios | Zendy

Yongzhuang Liu | Zendy; Jian Liu | Zendy; Jianguo Lü | Zendy; Jiajie Peng | Zendy; Liran Juan | Zendy; Xiaolin Zhu | Zendy; Bingshan Li | Zendy; Yadong Wang | Zendy

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Joint detection of copy number variations in parent-offspring trios

Author(s) -

Yongzhuang Liu,

Jian Liu,

Jianguo Lü,

Jiajie Peng,

Liran Juan,

Xiaolin Zhu,

Bingshan Li,

Yadong Wang

Publication year - 2015

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/btv707

Subject(s) - copy number variation , computer science , offspring , hidden markov model , software , genome , biology , computational biology , genetics , artificial intelligence , gene , pregnancy , programming language

Whole genome sequencing (WGS) of parent-offspring trios is a powerful approach for identifying disease-associated genes via detecting copy number variations (CNVs). Existing approaches, which detect CNVs for each individual in a trio independently, usually yield low-detection accuracy. Joint modeling approaches leveraging Mendelian transmission within the parent-offspring trio can be an efficient strategy to improve CNV detection accuracy.

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