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


  • nelsondl
    nelsondl @EricTopol @nature @WeizmannScience @LenPennacchio @SHEBA_ Very interesting paper—good example of trouble with the reference sequence: “Transcriptome analysis revealed that an unannotated open reading frame (Percc1) flanks the regulatory sequence…” Amazingly, this work was originally submitted in September of 2014! Tenacity! t.co/Qd6ycO0bC2
  • RyanLCollins13
    RyanLCollins13 @Jack_Kosmicki Yeah, I was thinking along the same lines My 2c: deletion of a TSS, even if protein-coding seq is not impacted, seems like a direct effect on transcript encoded by the gene. Not "noncoding" in the cis-regulatory (e.g. distal enhancer) sense Either way, still a great example
  • si_hardwick
    si_hardwick Just published in @NatureProtocols: a step-by-step guide for using DNA spike-ins ('sequins') in human genome sequencing, including both wet-lab and bioinformatics. t.co/1OFGXDW3qE
  • RyanLCollins13
    RyanLCollins13 Final thought: 👏 to authors for very thorough workup: 1. mapped clustered deletions 2. reporter assay validated function of critical element 3. characterized locus in relevant tissue & found unannotated gene 4. knockout of gene in mouse -> phenotype 5. rescue via transgene Wow!