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!).
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!