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.
- My lab is actively looking for postdocs to work on a wide range of projects asking questions about germline and somatic mutation, as well as genome analysis software development. Please DM me if interested! #sciencejobs #ASHGtrainees #ASHG2021
- Public release of first ~150k @uk_biobank whole genomes will be in early November! 😀 1 variant every 4-5 bps, 44% singletons 8.1% coding variants not in WES (85.3% UTR variants) STRs and SVs also called Improved regulatory variant annotation hugely needed for analysis! #ASHG21
- Genetic associations of protein-coding variants in human disease t.co/oG46580PL8 #medRxiv
- @smk_farhan @AhmadAlKhleifat Cool! Looks very useful. Thanks for pointing it out!