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...
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.
Recently, I wrote a short peice for a great local science news & media outlet, Science In The News (SITN), to explain how population-scale genetic sequencing is driving major advances in precision medicine.
The article is targeted primarily for the lay public (i.e. non-specialists), so it's mostly jargon-free. It gets even better for those among us who are more visually inclined learners: a fellow PhD student at HMS, Brad Wierbowski, put together some great graphical figures to explain the core concepts (thanks Brad!).
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...
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: