Ryan is a Ph.D candidate in the Bioinformatics and Integrative Genomics (BIG) program at Harvard Medical School, and is a member of the Talkowski lab at Massachusetts General Hospital and The Broad Institute. He is supported by an award from the Graduate Research Fellowship Program (GRFP) through the National Science Foundation (NSF).
His research focuses on the structure of the human genome, and how changes to genome structure contribute to human diversity and disease. He has led and contributed to numerous large-scale sequencing studies, such as the Genome Aggregation Database (gnomAD), one of the most widely adopted reference catalogs of human genetic variation in the world.
- It was fun to write a Preview with star grad student Corrine Smolen for @RyanLCollins13's paper in @CellCellPress. Collins et al paper: t.co/pEILnzcOI8 Preview: t.co/UHnBMc4Cka
- @EricTopol @girirajan16 @CellCellPress @broadinstitute @julirsch @TalkowskiLab Thanks for highlighting our work!! For those interested in learning more about our key findings, I summarized a few takeaway points in a thread here: t.co/eFPrWRj8NN
- @girirajan16 @CellCellPress Thanks for the excellent Preview of our study! Was a pleasure to read. Your work on oligogenic models of 3q29 & 16p12.1 in particular were critical for us when trying to make sense of the spectrum of architectures within these CNVs. Lots of interesting biology still to uncover!
- From extraordinary work in ~1 million people, "the gene dose makes the disease." An in-depth study of copy number variants t.co/Dbtxm7X5QC @girirajan16 @CellCellPress t.co/8dqj9N49dk by @RyanLCollins13 @broadinstitute @julirsch @TalkowskiLab t.co/M3FzWyXFyW