Our collaboration with Sam Schilit, Cynthia Morton, and the rest of the DGAP team on a case of congenital hearing loss with a de novo balanced translocation, dubbed DGAP242, was published this week in European Journal of Human Genetics. The article can be viewed here. Congrats to...
aaronquinlanSVAFotate: a new tool from our lab for annotating SVs with allele frequencies observed in gnomAD, CCDG, and 1000 genomes datasets. Useful for variant prioritization in rare disease and other studies. t.co/YC0WA54Y86
ksamochaLovely weather in Vienna for some science! #ESHG2022
-I’m hiring! Please say hello if you’d like to chat about opportunities :)
-I’ll talk about some hot-off-the-cloud analyses of regional missense constraint on Monday (S22 session) t.co/QMB39MB3sH
RyanDhindsaLove seeing the attention that synonymous mutations are getting. But the notion that "synonymous mutations could be nearly as important as nonsynonymous mutations in causing disease" seems like a stretch.
queenjoboOur work on germline hypermutation and the potential genetic and chemotherapeutic influences on this phenomenon from the
@mehurles group is now published! t.co/9QKrH5a5MM
Quick summary below 👇