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.
- @zevkronenberg @tycheleturner @tobias_757 @ryanlayer @ryan_e_mills @brent_p @cwhelan might also have some good suggestions here too — he usually has his fingers on the pulse of this stuff
- @zevkronenberg @tycheleturner @tobias_757 @ryanlayer @ryan_e_mills Oof, easy to install & run is an unfortunately high bar. We’ve had good experiences with cn.MOPS (as long as you’re OK with R). Or is your goal estimating copy number of predefined intervals? If so, Duphold from @brent_p is 💯 (as is everything else he develops)
- Interested in ASDs? Experienced in the analysis of complex GWAS data? Apply to join our lab as a postdoc! Lead the integration of @SPARKforAutism data into both @PGCgenetics and the exciting suite of neurodevelopmental genomics activities @broadinstitute
- Mitochondrial DNA variation across 56,434 individuals in gnomAD t.co/uVemDNQfO2 #biorxiv_genomic