ParseCNV integrative copy number variation association software with quality tracking

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ParseCNV integrative copy number variation association software with quality tracking

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 ...

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Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number variants (CNVs) on the phenotype. The most common analytic approach involves estimating, at the level of the individual genome, the underlying num...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2013

ISSN: 1362-4962,0305-1048

DOI: 10.1093/nar/gks1346