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MarkerMatch: A Proximity-Based Probe-Matching Algorithm for Joint Analysis of Copy-Number Variants from Different Genotyping Arrays

2025-07-04

Abstract excerpt

<h4>Motivation</h4> Copy-number variants (CNVs) are a form of genetic structural variation with increasing importance in complex human disorders. Both DNA sequencing and microarray data can be used to call CNVs, which can be used in association tests, such as association between CNV number and disease status. Unlike genotypes, CNV detection in microarrays requires the use of observed intensity signals at each pro...

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Literature Corpus work: 6b11da63-1e25-5afd-953a-80e42bbe4729
DOI: 10.1101/2025.06.30.662249

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