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ParseCNV integrative copy number variation association software with quality tracking

3 Jan 2013

Abstract excerpt

A number of copy number variation (CNV) calling algorithms exist; however, comprehensive software tools for CNV association studies are lacking. We describe ParseCNV, unique software that takes CNV calls and creates probe-based statistics for CNV occurrence in both case-control design and in family based studies addressing both de novo and inheritance events, which are then summarized based on CNV regions...

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PMID: 23293001
DOI: 10.1093/nar/gks1346

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