Article

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

2022-08-26

Abstract excerpt

<h4>SUMMARY</h4> Copy number variants (CNVs) are major contributors to genetic diversity and disease. To date, exome sequencing (ES) has been generated for millions of individuals in international biobanks, human disease studies, and clinical diagnostic screening. While standardized methods exist for detecting short variants (single nucleotide and insertion/deletion variants) using tools such as the Genome Analys...

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Literature Corpus work: d37415f2-9f20-5d77-9973-00d733a712fe
DOI: 10.1101/2022.08.25.504851

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