Combining calls from multiple somatic mutation-callers
نویسندگان
چکیده
منابع مشابه
Comparing somatic mutation-callers
Background: Somatic mutation-calling based on DNA from matched tumor-normal patient samples is one of the key tasks carried by many cancer genome projects. One such large-scale project is The Cancer Genome Atlas (TCGA), which is now routinely compiling catalogs of somatic mutations from hundreds of paired tumor-normal DNA exome-sequence data. Nonetheless, mutation calling is still very challeng...
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Four popular somatic single nucleotide variant (SNV) calling methods (Varscan, SomaticSniper, Strelka and MuTect2) were carefully evaluated on the real whole exome sequencing (WES, depth of ~50X) and ultra-deep targeted sequencing (UDT-Seq, depth of ~370X) data. The four tools returned poor consensus on candidates (only 20% of calls were with multiple hits by the callers). For both WES and UDT-...
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Upon reading Christopher Goodnow’s recent Review article in Cell, which emphasized the overlapping role of somatic mutation in autoimmunity and cancer (Goodnow, 2007), I was reminded of a graduate lecture course given by Professor Roderick MacLeod in 1995 at the University of Illinois. While introducing F.M. Burnet’s clonal selection theory to our small class, Professor MacLeod mentioned Burnet...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2014
ISSN: 1471-2105
DOI: 10.1186/1471-2105-15-154