Article

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipeline

2024-03-14

Abstract excerpt

<h4>Background</h4> 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. <h4>Results</h4> The p...

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Literature Corpus work: eb310dbe-647c-5617-bf43-e38262a61468
DOI: 10.1101/2024.03.13.584428

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