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).
- 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
- 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.
- 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
- Multi-omic measurements of heterogeneity in HeLa cells across laboratories t.co/4gOzYrRyZ9 t.co/WkezXPQ2Qj