Welcome

Ryan is a Ph.D. candidate studying translational human genomics in the Bioinformatics and Integrative Genomics program at Harvard Medical School. He is supported by an award from the Graduate Research Fellowship Program (GRFP) through the National Science Foundation (NSF).

Click here to read more about Ryan's research interests and publications, or to see his CV.

Structure Meets Function (Blog)

Strength in numbers: genetic sequencing of large populations is shaping the future of medicine

Recently, I wrote a short peice for a great local science news & media outlet, Science In The News (SITN), to explain how population-scale genetic sequencing is driving major advances in precision medicine.

The article is targeted primarily for the lay public (i.e. non-specialists), so it's mostly jargon-free. It gets even better for those among us who are more visually inclined learners: a fellow PhD student at HMS, Brad Wierbowski, put together some great graphical figures to explain the core concepts (thanks Brad!).

While not a dedicated,...

Read more about Strength in numbers: genetic sequencing of large populations is shaping the future of medicine
More

@ryanlcollins13

  • nickywhiffin
    nickywhiffin Interested in loss-of-function variants but overwhelmed by all the data in the gnomAD pre-prints? Here are some key steps to build into any analysis pipeline (whether you are interpreting variants clinically or conducting discovery studies). t.co/mULwLI2oBH
  • ewanbirney
    ewanbirney Yesterday I tweeted on not over interpreting the "predictability" of genetics - a strong theme for me for sometime ("DNA is not your destiny"), but I note that some people have used this as an argument that "genetics is pointless" or -more nuanced- not value for money. Not true.
  • beryl_bbc
    beryl_bbc Our new gnomAD companion preprint, on the importance of transcript expression for interpretation. In gnomAD we see variants we don't expect (e.g. in haploinsufficient disease genes). Often found on alternative txs, with little evidence of expression 1/4 t.co/yAOoxQ3qma
  • NatureBiotech
    NatureBiotech Multi-omic measurements of heterogeneity in HeLa cells across laboratories t.co/4gOzYrRyZ9 t.co/WkezXPQ2Qj