A tool for calling copy number variation (CNV) from targeted exome sequencing data. ExomeDepth tool is specifically designed to address technical variability between the samples.
Genetics; Genetic variation; Exome sequencing; Gene transcripts; Mapping; Sequencing
Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S "A robust model for read count data in exome sequencing experiments and implications for copy number variant calling." Bioinformatics. 2012 Nov 1;28(21):2747-54. https://doi.org/10.1093/bioinformatics/bts526
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