Article

CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision

2024-09-13

Abstract excerpt

<h4>Background</h4> Large rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk. CNVs can be detected using different data sources, including genome sequencing, genotyping arrays and quantitative PCR experiments, but in most large cohorts, genotyping arrays remain the most prevalent source. Current methods to call CNVs from genot...

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Literature Corpus work: 5c64de67-cb13-516c-83cf-1d63458f2979
DOI: 10.1101/2024.09.09.612035

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