• Liu Y, Liu J, Lu J, Peng J, Juan L, Zhu X, Li B, Wang Y. Joint detection of copy number variations in parent-offspring trios. Bioinformatics (Oxford, England). 2016 Apr 15;32(8). 1130-7. PMID: 26644415 [PubMed]. PMCID: PMC4907378.

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.