We recently posted a medRxiv preprint on our large-scale data aggregation efforts for rare copy-number variants (rCNVs) across human diseases and disorders.
It's hard to believe, but this study actually started over five years ago as a final project in MIT's Quantitatve Genomics course co-taught by Profs. Leonid Mirny and Shamil Sunyaev during my first semester as a PhD student back in the fall...
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 👇
GenomeBrowserNew track! The gnomAD Genomes Mutation Constraint track on the human GRCh38/hg38 genome. This track uses the latest gnomAD data to calculate selection pressure, using relative frequency of variation in 1 kilobase windows across the genome. Try it here:
ksamochaI'm hiring postdocs to join my team at @CGM_MGH & Broad! We study patterns of rare variation in large genomic datasets (like gnomAD), and leverage those into insights about genetic risk for disease.
If you are interested, please reach out or apply here: