Last week, we released the initial structural variant (SV) callset for the Genome Aggregation Database (gnomAD), which included nearly a half-million distinct SVs discovered across ~15 thousand human whole-genome sequences.
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 👇