Welcome
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.
Click here to read more about Ryan's research interests and publications, or to see his CV.
Structure Meets Function (Blog)
@ryanlcollins13
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SVAFotate: a new tool from our lab for annotating SVs with allele frequencies observed in gnomAD, CCDG, and 1000 genomes datasets. Useful for variant prioritization in rare disease and other studies. t.co/YC0WA54Y86
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Lovely weather in Vienna for some science! #ESHG2022 Two notes: -I’m hiring! Please say hello if you’d like to chat about opportunities :) -I’ll talk about some hot-off-the-cloud analyses of regional missense constraint on Monday (S22 session) t.co/QMB39MB3sH
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Love seeing the attention that synonymous mutations are getting. But the notion that "synonymous mutations could be nearly as important as nonsynonymous mutations in causing disease" seems like a stretch. t.co/5YowqYnjgQ
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Our work on germline hypermutation and the potential genetic and chemotherapeutic influences on this phenomenon from the @mehurles group is now published! t.co/9QKrH5a5MM Quick summary below 👇
