Today I'm commenting on the interplay of structural variation (SV) and genome topology (e.g. TADs) in human diseases, the impetus for which stems from two papers we recently published (Redin et al., Nat. Genet., 2016 & Ordulu et al.,...
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
Two notes:
-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.
t.co/5YowqYnjgQ
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 👇