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Molecular Physiology & Biophysics

Joint detection of copy number variations in parent-offspring trios.

AUTHORS

Liu Y , Liu J , Lu J , Peng J , Juan L , Zhu X , Li B , Wang Y , . Bioinformatics (Oxford, England). 2016 4 15; 32(8). 1130-7

ABSTRACT

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.

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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