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)

Three thoughts on human genomics in the year 2021

We recently posted a medRxiv preprint on our large-scale data aggregation efforts for rare copy-number variants (rCNVs) across human diseases and disorders.

It's hard to believe, but this study actually started over five years ago as a final project in MIT's Quantitatve Genomics course co-taught by Profs. Leonid Mirny and Shamil Sunyaev during my first semester as a PhD student back in the fall...

Read more about Three thoughts on human genomics in the year 2021


  • RyanLCollins13
    RyanLCollins13 Interested in complex structural variants and Mendelian diseases? Check out this fascinating example of a dupINVdup causing a blood disorder by @bloodgenes & co 👇 Functional follow-up was crucial to understand the consequence of the SV Glad to have played a (very) small part! t.co/UqcwX5DHjS
  • gnomad_project
    gnomad_project Have your voice heard! We want to hear more about who our users are, how they use gnomAD and what they think we can do to make it better. If you use the gnomAD browser, or download gnomAD data, please take 5 minutes to fill out our user survey t.co/TVeOG5SCfi
  • acarroll_ATG
    acarroll_ATG This looks pretty cool. If I read it correctly, they assemble 20% of the genome from one single cell, and can look at things like TCR rearrangement, or identify somatic SVs without the complexity of somatic calling. Impressive this is possible! @_adameur & @infoecho on the work t.co/lpn3rf7Z8i
  • RyanLCollins13
    RyanLCollins13 👇 Valuable skim for anyone using CRISPR-Cas9 in applications where high edit fidelity is important Not a shocking finding (I assumed outcomes like this were very rare but possible), but hugely important to have this empirically demonstrated! Awesome genome bio here, too👏 t.co/nZyImgodUJ