An integrative variant analysis suite for whole exome next-generation sequencing data

作者: Danny Challis , Jin Yu , Uday S Evani , Andrew R Jackson , Sameer Paithankar

DOI: 10.1186/1471-2105-13-8

关键词: ExomeHuman genomeGeneticsCancer genome sequencingDNA sequencingGenomeBiologyComputational biologyDNA sequencing theoryGenomicsExome sequencing

摘要: Background Whole exome capture sequencing allows researchers to cost-effectively sequence the coding regions of genome. Although methods have become routine and well established, there is currently a lack tools specialized for variant calling in this type data.

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