Archive | Publications

JointSNVMix paper published: a statistical model for somatic point mutation detection

Andrew Roth, Ryan Morin, Jiarui Ding, Anamaria Crisan, Gavin Ha, Ryan Giuliany, Ali Bashashati, Martin Hirst, Gulisa Turashvili, Arusha Oloumi, Marco A. Marra, Samuel Aparicio and Sohrab P. Shah. JointSNVMix : A Probabilistic Model For Accurate Detection Of Somatic Mutations In Normal/Tumour Paired Next Generation Sequencing Data. Bioinformatics. 2012 doi: 10.1093/bioinformatics/bts053 SOFTWARE

MutationSeq paper on feature based classifiers for somatic mutation detection published

Jiarui Ding; Ali Bashashati; Andrew Roth; Arusha Oloumi; Kane Tse; Thomas Zeng; Gholamreza Haffari; Martin Hirst; Marco A. Marra; Anne Condon; Samuel Aparicio; Sohrab P. Shah. “Feature based classifiers for somatic mutation detection in tumour-normal paired sequencing data.” Bioinformatics 2011; doi: 10.1093/bioinformatics/btr629 [PDF] [SOFTWARE]

Discovery of CIITA gene fusions in lymphoid cancers published in Nature.

Today, our discovery that CIITA is a recurrent gene fusion partner in lymphoid cancers appeared in Nature. Here is a link to the article.