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.
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