biostudies-literatureBellos EBiotechnology and Biological Sciences Research CouncilR120https://www.ebi.ac.uk/biostudies/studies/S-EPMC4056371biostudies-literatureUnknown13(12)Recent advances in sequencing technologies provide the means for identifying copy number variation (CNV) at an unprecedented resolution. A single next-generation sequencing experiment offers several features that can be used to detect CNV, yet current methods do not incorporate all available signatures into a unified model. cnvHiTSeq is an integrative probabilistic method for CNV discovery and genotyping that jointly analyzes multiple features at the population level. By combining evidence from complementary sources, cnvHiTSeq achieves high genotyping accuracy and a substantial improvement in CNV detection sensitivity over existing methods, while maintaining a low false discovery rate. cnvHiTSeq is available at http://sourceforge.net/projects/cnvhitseq.Genome biologycnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data.PMC4056371BB/H024808/1Johnson MRBellos ECoin LJfalsecnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data.Recent advances in sequencing technologies provide the means for identifying copy number variation (CNV) at an unprecedented resolution. A single next-generation sequencing experiment offers several features that can be used to detect CNV, yet current methods do not incorporate all available signatures into a unified model. cnvHiTSeq is an integrative probabilistic method for CNV discovery and genotyping that jointly analyzes multiple features at the population level. By combining evidence from complementary sources, cnvHiTSeq achieves high genotyping accuracy and a substantial improvement in CNV detection sensitivity over existing methods, while maintaining a low false discovery rate. cnvHiTSeq is available at http://sourceforge.net/projects/cnvhitseq.2012-01-01T00:00:00Z2012 Dec2021-02-19T09:14:30Z2019-03-27T01:30:08ZS-EPMC40563712325957810.1186/gb-2012-13-12-r120