JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

@inproceedings{Roth2012JointSNVMixAP,
  title={JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data},
  author={Andrew Roth and Jiarui Ding and Ryan D. Morin and Anamaria Crisan and Gavin Ha and Ryan Giuliany and Ali Bashashati and Martin Hirst and Gulisa Turashvili and Arusha Oloumi and Marco A. Marra and Sam Aparicio and Sohrab P. Shah},
  booktitle={Bioinformatics},
  year={2012}
}
MOTIVATION Identification of somatic single nucleotide variants (SNVs) in tumour genomes is a necessary step in defining the mutational landscapes of cancers. Experimental designs for genome-wide ascertainment of somatic mutations now routinely include next-generation sequencing (NGS) of tumour DNA and matched constitutional DNA from the same individual. This allows investigators to control for germline polymorphisms and distinguish somatic mutations that are unique to the tumour, thus reducing… CONTINUE READING