I’m a research fellow at Massachusetts General Hospital and the Broad Institute, advised by Daniel MacArthur. I graduated with a PhD from the Biomedical Informatics training program at Stanford University, advised by Mike Snyder and co-advised by Stephen Montgomery, and my undergraduate was in Molecular Biology from Princeton University, specializing in Quantitative and Computational Biology (advisor: Amy Caudy). I am the co-author of Exploring Personal Genomics, the first inquiry-based guide to understanding and interpreting a personal genome, available from Amazon.

You can find my CV here.


RSS Recent Publications


  • RT @beryl_bbc: Low pext selectively filter false positive variants in gnomAD, while leaving pathogenic variants in ClinVar largely untouche… 3 days ago
  • RT @beryl_bbc: Our new gnomAD companion preprint, on the importance of transcript expression for interpretation. In gnomAD we see variants… 3 days ago
  • Finally adapting LOFTEE to work with GRCh38, only to find there are no GERP scores available! Anyone know where the… twitter.com/i/web/status/1… 2 weeks ago
  • RT @lukwam: The Broad Institute in Cambridge has a Super Bowl wager with The Broad in LA. If Patriots win, @joanneheyler has to come here a… 2 weeks ago
  • RT @cureffi: Thanks! One way to think about it is, gnomAD now contains more than the square root of Earth's population (!), so if we haven'… 3 weeks ago