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Article

An integrated approach for copy number variation discovery in parent-offspring trios.

Briefings in bioinformatics - 5 Nov 2021

Liu Yongzhuang, Wu Xiaoliang, Wang Yadong

Abstract excerpt

Whole-genome sequencing (WGS) of parent-offspring trios has become widely used to identify causal copy number variations (CNVs) in rare and complex diseases. Existing CNV detection approaches usually do not make effective use of Mendelian inheritance in parent-offspring trios and yield low accuracy. In this study, we propose a novel integrated approach, TrioCNV2, for jointly detecting CNVs from WGS data of the...

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PMID: 34151932
DOI: 10.1093/bib/bbab230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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