Journal article
Custom workflows to improve joint variant calling from multiple related tumour samples: FreeBayesSomatic and Strelka2Pass
S Hollizeck, SQ Wong, B Solomon, D Chandrananda, SJ Dawson
Bioinformatics | OXFORD UNIV PRESS | Published : 2021
Abstract
This work describes two novel workflows for variant calling that extend the widely used algorithms of Strelka2 and FreeBayes to call somatic mutations from multiple related tumour samples and one matched normal sample. We show that these workflows offer higher precision and recall than their single tumour-normal pair equivalents in both simulated and clinical sequencing data.
Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council [1196755 to S.-J.D., 1158345 to S.-J.D. and B.J.S., 1194783 to S.Q.W., 1173450 to B.J.S.]; and CSL Centenary Fellowship to S.J.D; Victorian Cancer Agency [19008 to D.C., 19002 to S.Q.W.].