Laurent Francioli

[Nicky Whiffin @nickywhiffin]

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature https://t.co/FeDLGm14MB
🧵 1/16

[Laurent Francioli @LFranciol]

@nickywhiffin @GenomicsEngland Wow, this is really incredible @nickywhiffin !!

[Laurent Francioli @LFranciol]

@cureffi @broadinstitute @MGHNeurology @harvardmed @JRosand_MD @MeritCudkowicz Congrats!!

[Heidi Rehm @HeidiRehm]

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 @benweisburd which has also enabled many diagnoses in our Rare Genomes Project.

[Laurent Francioli @LFranciol]

@hilsomartin @EmilieWigdor Congrats!

[Laurent Francioli @LFranciol]

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

[Konrad Karczewski @konradjk]

We're excited to share the next phase of work on the gnomAD data. With 76,156 genomes, we took a look at constraint against non-coding regions in a manuscript led by Siwei Chen: https://t.co/YgmlY757dv

[Genome Aggregation Database @gnomad_project]

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 https://t.co/aJxa4IRkpo

[Kasper Lage @kasper_lage]

Please RT! We are looking for a Scientific Operations Manager for the @novonordiskfond Center for Genomic Mechanisms of Disease @broadinstitute. Come play a key role in a vibrant partnership to improve human health through genomics and data sciences:
https://t.co/JktTCN6TM0

[Genome Aggregation Database @gnomad_project]

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
https://t.co/RSr8GcG0ND

[Laurent Francioli @LFranciol]

@yfarjoun @BrentRichards19 @broadinstitute Congrats Yossi ! All the best for this new adventure!

[Daniel MacArthur @dgmacarthur]

An exciting #ASHG20 update from @gnomad_project - the release of v3.1, with over 3,000 new diverse genomes added, and a bunch of new features: https://t.co/dGXSI6IlGN Massive props to the team for their hard work on this release!

[Daniel MacArthur @dgmacarthur]

Interested in exploring the contribution of rare genetic variants to gene expression? @drjosephpowell 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: https://t.co/Ue31GG5vyp

[Laurent Francioli @LFranciol]

@smk_farhan @TheNeuro_MNI @mcgillu Congrats Sali, very exciting!

[Daniel MacArthur @dgmacarthur]

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 @HeidiRehm is a badass.

[Laurent Francioli @LFranciol]

@genetisaur Congrats Alicia! Can't wait to see all the good science that will be coming from the Martin lab 😁

[Nicky Whiffin @nickywhiffin]

📢 Only 4 days left to apply to do a PhD in my new group in Oxford!

@HumanGeneticsOx @NDMOxford @UniofOxford

Apply here: https://t.co/MIL28QrmdV

Deadline: Monday (20th July)

See thread below for more details 👇

[Konrad Karczewski @konradjk]

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: https://t.co/8NwYqLvMG9

[Laurent Francioli @LFranciol]

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:
https://t.co/z8s1mCTSa1