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Article

Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline.

BMC bioinformatics - 15 Nov 2024

Artaza Haydee, Lavrichenko Ksenia, Wolff Anette S B, Røyrvik Ellen C, Vaudel Marc, Johansson Stefan

Abstract excerpt

BACKGROUND: Rare copy number variants (CNVs) significantly influence the human genome and may contribute to disease susceptibility. High-throughput SNP genotyping platforms provide data that can be used for CNV detection, but it requires the complex pipelining of bioinformatic tools. Here, we propose a flexible bioinformatic pipeline for rare CNV analysis from human SNP array data. RESULTS: The pipeline consists...

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PMID: 39548362
DOI: 10.1186/s12859-024-05979-0
PMCID: PMC11566566

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