Article

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

2024-10-29

Abstract excerpt

<h4>Background</h4> Copy number variation (CNV) is a class of genomic Structural Variation (SV) that underlie genomic disorders and can have profound implications for health. Short-read genome sequencing (sr-GS) enables CNV calling for genomic intervals of variable size and across multiple phenotypes. However, unresolved challenges include an overwhelming number of false-positive calls due to systematic biases fr...

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Literature Corpus work: 81510133-d3b3-540a-b413-24c86f836db9
DOI: 10.1101/2024.10.27.620363

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