Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing.
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ABSTRACT:
SUBMITTER: Hard J
PROVIDER: S-EPMC6444814 | biostudies-other | 2019 Apr
REPOSITORIES: biostudies-other
Publications
Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing.
Hård Joanna J Al Hakim Ezeddin E Kindblom Marie M Björklund Åsa K ÅK Sennblad Bengt B Demirci Ilke I Paterlini Marta M Reu Pedro P Borgström Erik E Ståhl Patrik L PL Michaelsson Jakob J Mold Jeff E JE Frisén Jonas J
Genome biology 20190401 1
Accurate variant calling and genotyping represent major limiting factors for downstream applications of single-cell genomics. Here, we report Conbase for the identification of somatic mutations in single-cell DNA sequencing data. Conbase leverages phased read data from multiple samples in a dataset to achieve increased confidence in somatic variant calls and genotype predictions. Comparing the performance of Conbase to three other methods, we find that Conbase performs best in terms of false dis ...[more]
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