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10.1186/1471-2105-15-154

http://scihub22266oqcxt.onion/10.1186/1471-2105-15-154
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suck abstract from ncbi


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pmid24885750
      BMC+Bioinformatics 2014 ; 15 (ä): 154
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  • Combining calls from multiple somatic mutation-callers #MMPMID24885750
  • Kim SY ; Jacob L ; Speed TP
  • BMC Bioinformatics 2014[May]; 15 (ä): 154 PMID24885750 show ga
  • BACKGROUND: Accurate somatic mutation-calling is essential for insightful mutation analyses in cancer studies. Several mutation-callers are publicly available and more are likely to appear. Nonetheless, mutation-calling is still challenging and there is unlikely to be one established caller that systematically outperforms all others. Therefore, fully utilizing multiple callers can be a powerful way to construct a list of final calls for one's research. RESULTS: Using a set of mutations from multiple callers that are impartially validated, we present a statistical approach for building a combined caller, which can be applied to combine calls in a wider dataset generated using a similar protocol. Using the mutation outputs and the validation data from The Cancer Genome Atlas endometrial study (6,746 sites), we demonstrate how to build a statistical model that predicts the probability of each call being a somatic mutation, based on the detection status of multiple callers and a few associated features. CONCLUSION: The approach allows us to build a combined caller across the full range of stringency levels, which outperforms all of the individual callers.
  • |DNA Mutational Analysis/*methods [MESH]
  • |Endometrial Neoplasms/genetics [MESH]
  • |Female [MESH]
  • |Genome [MESH]
  • |Genomics [MESH]
  • |Humans [MESH]
  • |Logistic Models [MESH]
  • |Models, Statistical [MESH]


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