Huge SV bioRxiv preprint from deCODE Genetics today: Oxford Nanopore WGS @ 15x coverage in 1.8 **thousand** icelanders Yes, thousand. Not a typo. About *two orders of magnitude* more than the largest published long-read human SV study 🤯😮 Wow. biorxiv.org/content/early/…

I see that the black Friday / cyber Monday sequencing deals are back this year. Just a warning if you're considering getting the Dante Labs promo: I purchased mine a year ago and still don't have anything (and their customer support couldn't care less)

We are launching the "COVID-19 host genetics initiative" Goal: aggregate genetic and clinical information on individuals affected by COVID-19 FIMM HelsinkiUni will genotype samples for FREE and make the data available to the scientific community covid-19genehostinitiative.net

The gnomAD package is officially out! We look at those genes where we see loss-of-function variants, but also those where we don't see any, and learn a lot about genes along the way: nature.com/articles/s4158…

New blog post on the package of gnomAD papers published today: as we sequence the DNA of more and more people, an increasing fraction of what we learn comes not from analyzing the genetic variants we see, but from the genetic variants we *don't* see. cureffi.org/2020/05/27/var…

So happy to see the gnomAD package published today! It's been such a privilege to be part of the gnomAD team and contribute to this scientific odyssey! A summary with links to all 7 papers here: nature.com/immersive/d428…

📢 Only 4 days left to apply to do a PhD in my new group in Oxford! Centre for Human Genetics Nuffield Department of Medicine University of Oxford Apply here: ndm.ox.ac.uk/investigating-… Deadline: Monday (20th July) See thread below for more details 👇

Whenever I start getting too pessimistic about the US, I think about the incredible feat @BroadGenomics has managed to pull off in massive-scale COVID testing. It's exactly the kind of relentless innovation the country needs. Plus Heidi Rehm is a badass.

Interested in exploring the contribution of rare genetic variants to gene expression? Joseph Powell and I are looking for postdocs to lead analyses of a new data set of >1,000 whole-genome-sequenced individuals with scRNA-seq data. More details: garvan.wd3.myworkdayjobs.com/en-US/garvan_i…

An exciting #ASHG20 update from Genome Aggregation Database - the release of v3.1, with over 3,000 new diverse genomes added, and a bunch of new features: gnomad.broadinstitute.org/blog/2020-10-g… Massive props to the team for their hard work on this release!

The #gnomAD browser now has variant co-occurrence (inferred phasing) information in v2, most helpful for interpreting genetic results for recessive diseases. To learn more about our approach and how to use it please visit gnomad.broadinstitute.org/news/2021-07-v…

Please RT! We are looking for a Scientific Operations Manager for the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease Broad Institute. Come play a key role in a vibrant partnership to improve human health through genomics and data sciences: broadinstitute.wd1.myworkdayjobs.com/en-US/broad_in…

We are excited to announce that #gnomAD v3.1 now has local ancestry-informed frequency data for Latino/Admixed American samples. Variants identified in this population now have estimated allele counts and frequencies partitioned by continental ancestries broad.io/gnomad_lai

So happy to see gnomAD v3 and the work on non-coding constraint out! 😊

As we all continue to work on deriving the most value from WGS, we're excited to post this preprint of a genome-wide truth set for tandem repeat detection. An amazing amount of work from Ben Weisburd which has also enabled many diagnoses in our Rare Genomes Project.

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16