Article
VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications.
Bioinformatics (Oxford, England) - 1 May 2015
Mu John C, Mohiyuddin Marghoob, Li Jian, Bani Asadi Narges, Gerstein Mark B, Abyzov Alexej, Wong Wing H, Lam Hugo Y K
Abstract excerpt
SUMMARY: VarSim is a framework for assessing alignment and variant calling accuracy in high-throughput genome sequencing through simulation or real data. In contrast to simulating a random mutation spectrum, it synthesizes diploid genomes with germline and somatic mutations based on a realistic model. This model leverages information such as previously reported mutations to make the synthetic genomes biologically...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.