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CNV-Profile Regression: A New Approach for Copy Number Variant Association Analysis in Whole Genome Sequencing Data

2024-11-25

Abstract excerpt

Copy number variants (CNVs) are DNA gains or losses involving >50 base pairs. Assessing CNV effects on disease risk requires consideration of several factors. First, there are no natural definitions for CNV loci. Second, CNV effects can depend on dosage and length. Third, CNV effects can be more accurately estimated when all CNV events in a genomic region are analyzed together to assess their joint effects. We pro...

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Literature Corpus work: 0a938f89-bf98-564d-8e7c-8833c4ca7c91
DOI: 10.1101/2024.11.23.624994

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