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...
gnomad_projectWe’re hiring! Looking for an experienced computational scientist to:
- Help design the open-source cloud pipelines we use to produce our exponentially growing releases
- Develop new features and analyses
- Eventually manage team members
Join us here: t.co/k3vgEh8f13
aaronquinlanMy lab is actively looking for postdocs to work on a wide range of projects asking questions about germline and somatic mutation, as well as genome analysis software development. Please DM me if interested! #sciencejobs#ASHGtrainees#ASHG2021
nickywhiffinPublic release of first ~150k @uk_biobank whole genomes will be in early November! 😀
1 variant every 4-5 bps, 44% singletons
8.1% coding variants not in WES (85.3% UTR variants)
STRs and SVs also called
Improved regulatory variant annotation hugely needed for analysis!