TY - JOUR T1 - tHapMix: simulating tumour samples through haplotype mixtures JF - bioRxiv DO - 10.1101/057414 SP - 057414 AU - Sergii Ivakhno AU - Camilla Colombo AU - Stephen Tanner AU - Philip Tedder AU - Stefano Berri AU - Anthony J. Cox Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/06/06/057414.abstract N2 - Motivation Large-scale rearrangements and copy number changes combined with different modes of clonal evolution create extensive somatic genome diversity, making it difficult to develop versatile and scalable variant calling tools and create well-calibrated benchmarks.Results We developed a new simulation framework tHapMix that enables the creation of tumour sam-ples with different ploidy, purity and polyclonality features. It easily scales to simulation of hundreds of somatic genomes, while re-use of real read data preserves noise and biases present in sequencing platforms. We further demonstrate tHapMix utility by creating a simulated set of 140 somatic genomes and showing how it can be used in training and testing of somatic copy number variant calling tools.Availability and implementation tHapMix is distributed under an open source license and can be downloaded from https://github.com/Illumina/tHapMix.Contact sivakhno{at}illumina.comSupplementary information Supplementary data are available at Bioinformatics online. ER -