JointSNVMix implements a probabilistic graphical model to analyse sequence data from tumour/normal pairs. The model draws statistical strength by analysing both genome jointly to more accurately classify germline and somatic mutations.

If you have questions see if they have been answered in the FAQ or the the google group for JointSNVMix users at http://groups.google.com/group/jointsnvmix-user-group. If you can't find an answer to your question, please post it on the google group.

Installation instructions are available here.

Running instructions can be found here.

For information about other software from the Shah lab see http://compbio.bccrc.ca/.

If you use JointSNVMix please cite :

Andrew Roth et al., JointSNVMix : A Probabilistic Model For Accurate Detection Of Somatic Mutations In Normal/Tumour Paired Next Generation Sequencing Data

If you use the --post_process command please also cite.

Jiarui Ding et al., Feature-based classifiers for somatic mutation detection in tumour–normal paired sequencing data