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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.