Conbase: a software for discovery of clonal somatic mutations in single cells through read phasing

Hard, J.; Al Hakim, E.; Kindblom, M.; Bjorklund, A.; Demirci, I.; Paterlini, M.; Sennblad, B.; Borgstrom, E.; Stahl, P. L.; Michaelsson, J.; Mold, J. E.; Frisen, J.

doi:10.1101/259994

bioRxiv · 10.1101/259994

Conbase: a software for discovery of clonal somatic mutations in single cells through read phasing

Hard, J.·Al Hakim, E.·Kindblom, M.·Bjorklund, A.·Demirci, I.·Paterlini, M.·Sennblad, B.·Borgstrom, E.·Stahl, P. L.·Michaelsson, J.·Mold, J. E.·Frisen, J.

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Abstract

Here we report the development of Conbase, a software application for the identification of somatic mutations in single cell DNA sequencing data with high rates of allelic dropout and at low read depth. Conbase leverages data from multiple samples in a dataset and utilizes read phasing to call somatic single nucleotide variants and to accurately predict genotypes in whole genome amplified single cells in somatic variant loci. We demonstrate the accuracy of Conbase on simulated datasets, in vitro expanded fibroblasts and clonally in vivo expanded lymphocyte populations isolated directly from a healthy human donor.

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Hard, J., Al Hakim, E., Kindblom, M., Bjorklund, A., Demirci, I., Paterlini, M., Sennblad, B., Borgstrom, E., Stahl, P. L., Michaelsson, J., Mold, J. E., Frisen, J.. 2018-02-05. Conbase: a software for discovery of clonal somatic mutations in single cells through read phasing. https://doi.org/10.1101/259994

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