We are a bioinformatics research group based in the Division of Genome Information Sciences, Department of Pediatrics at the University of California, San Diego. We have strong ties with the Department of Computer Science and Engineering and the Bioinformatics and Systems Biology program.

Our broad goal is to advance the understanding of the genetic basis of human disease and human genetic variation using high-throughput sequencing technologies. For this, we develop computational methods for the detection of DNA sequence variation as well as methods for identifying disease associated variants. We also apply these methods and large-scale data analysis to various human diseases.