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SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations
2016
BMC Systems Biology
Various approaches to calling single-nucleotide variants (SNVs) or insertion-or-deletion (indel) mutations have been developed based on next-generation sequencing (NGS). However, most of them are dedicated to a particular type of mutation, e.g. germline SNVs in normal cells, somatic SNVs in cancer/tumor cells, or indels only. In the literature, efficient and integrated callers for both germline and somatic SNVs/indels have not yet been extensively investigated. Results: We present SNVSniffer,
doi:10.1186/s12918-016-0300-5
pmid:27489955
pmcid:PMC4977481
fatcat:3tudsjrsjzdefntvjmg2nta7a4