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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D. Saleheen on sequencing+EHR for >100k Pakistanis: Analyzed >60k samples with high rate of consanguinity Found >5.2k (yes, five *thousand*!!) rare (AF<1%) naturally occurring human gene KOs!! Pardon me while I pick my jaw off the floor... Wow! What a way to end #ASHG2020
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@xtYao @rajivmccoy I think (unofficially) we have some plans to release the v3.1 SV VCF in full spec-compliant BND format, but are still ironing out some of the details
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@gnomad_project Here’s a longer blog post from the @gnomad_project team with all the technical details on the new data, features, and updated QC. Fellow genomics nerds will appreciate the new joint-calling method, code release, and data on all 3 clouds: t.co/yZRecYNmsy t.co/UwkgGmjyH5
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📢👇New #gnomAD release out (v3.1), including 76.2k genomes and expanded coverage of global pops. Congrats to the gnomAD team on making this release happen! Check out the new features and data here: t.co/stJUgMwNzM Just SNVs+indels for now. SVs coming soon. Stay tuned! t.co/4Cs4TvZrjB