Finding disease-associated rare variants, genes, and pathways from case-control studies and genomic sequencing data.
In the past few years, case-control studies of common diseases have shifted their focus from single genes to whole exomes. New sequencing technologies now routinely detect hundreds of thousands of sequence variants in a single study, many of which are rare or even novel. The limitation of classical single-marker association analysis for rare variants has been a challenge in such studies. A new generation of methods is being developed to meet this challenge. We are working to develop scalable algorithms that incorporate biological knowledge as well as allele frequencies to find causal variants, genes, and pathways..
Human Mutation 2016
BMC Genomics 2013