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Article

BMI-CNV: a Bayesian framework for multiple genotyping platforms detection of copy number variants.

Genetics - 30 Nov 2022

Luo Xizhi, Cai Guoshuai, Mclain Alexander C, Amos Christopher I, Cai Bo, Xiao Feifei

Abstract excerpt

Whole-exome sequencing (WES) enables the detection of copy number variants (CNVs) with high resolution in protein-coding regions. However, variants in the intergenic or intragenic regions are excluded from studies. Fortunately, many of these samples have been previously sequenced by other genotyping platforms which are sparse but cover a wide range of genomic regions, such as SNP array. Moreover, conventional...

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PMID: 36171678
DOI: 10.1093/genetics/iyac147
PMCID: PMC9713397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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