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...
gnomad_projectOur browser now includes short tandem repeat (STR) calls for 59 disease associated loci generated by running ExpansionHunter on 19,241 whole genome samples from #gnomAD v3.1 (t.co/mIt2pPnQTt). New features and link to blog post provided below: (1/6)
Our latest autism genomics study is finally done 🎉🎉
Our teams aggregated lots of genetic data to explore shared and distinct genes, mutations, and cellular expression patterns across ASD, developmental delay (DD), and schizophrenia (SCZ) cohorts. t.co/fHDONxUYoA