Laurent Francioli

100 posts

Laurent Francioli

@LFranciol

Katılım Ocak 2016

238 Takip Edilen154 Takipçiler

Laurent Francioli retweetledi

Nicky Whiffin@nickywhiffin·11 Tem

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

Yuyang Chen@quenchentin

(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…

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Laurent Francioli@LFranciol·9 Nis

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

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Nicky Whiffin@nickywhiffin·8 Nis

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Yuyang Chen@quenchentin

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

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Laurent Francioli@LFranciol·8 Tem

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

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Eric Vallabh Minikel@cureffi·7 Tem

While we & our lab will remain based at @broadinstitute, Sonia and I have just learned that we've both been promoted to Assistant Professor of Neurology at @MGHNeurology and @harvardmed. Huge thank you to @JRosand_MD and @MeritCudkowicz for believing in us!

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Laurent Francioli retweetledi

Heidi Rehm@HeidiRehm·10 May

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.

Ben Weisburd@benweisburd

- Are tandem repeat (TR) genotyping tools accurate beyond well-studied loci? - How often do they over-/underestimate expansions? - What % of variant loci are missing from existing genome-wide TR catalogs? To answer these questions, we created a genome-wide TR truth set: [1/N]

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Laurent Francioli@LFranciol·8 Ara

@hilsomartin @EmilieWigdor Congrats!

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Hilary Martin@hilsomartin·7 Ara

Congratulations to @EmilieWigdor, first graduate student from my lab, who passed her viva with flying colours recently and gave an excellent final seminar this week. We will miss you!

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Laurent Francioli@LFranciol·22 Mar

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: biorxiv.org/content/10.110…

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Laurent Francioli retweetledi

Genome Aggregation Database@gnomad_project·1 Ara

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

GIF

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Laurent Francioli retweetledi

Kasper Lage@kasper_lage·2 Kas

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: broadinstitute.wd1.myworkdayjobs.com/en-US/broad_in…

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Laurent Francioli retweetledi

Genome Aggregation Database@gnomad_project·12 Ağu

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…

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Laurent Francioli@LFranciol·1 Şub

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

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Yossi Farjoun@yfarjoun·1 Şub

Tomorrow I start a new chapter as a Sr. Biostatistician in @BrentRichards19's lab in #Montreal. It's been an amazing 8.5 years at the @broadinstitute! Many thanks to my team, colleagues, mentors, and managers. I look forward to collaborating with you all on ML and PRS and ...

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Laurent Francioli retweetledi

Daniel MacArthur@dgmacarthur·30 Eki

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: gnomad.broadinstitute.org/blog/2020-10-g… Massive props to the team for their hard work on this release!

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Laurent Francioli retweetledi

Daniel MacArthur@dgmacarthur·15 Eki

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: garvan.wd3.myworkdayjobs.com/en-US/garvan_i…

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Laurent Francioli@LFranciol·9 Eki

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

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Laurent Francioli retweetledi

Daniel MacArthur@dgmacarthur·4 Eyl

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.

Heidi Rehm@HeidiRehm

@dgmacarthur @BroadGenomics The team has not slept much lately. Even I joined them to work an overnight shift 4 pm to 4 am last night to help accession the >60,000 samples we got yesterday!

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Laurent Francioli@LFranciol·3 Ağu

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

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Alicia Martin@genetisaur·3 Ağu

I’m delighted to share some exciting personal news! I'll be starting a lab at MGH this fall that will continue to focus on addressing Eurocentric biases in genomics towards the goal of ensuring that genomic technologies can equitably benefit public health for all

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Laurent Francioli retweetledi

Nicky Whiffin@nickywhiffin·16 Tem

📢 Only 4 days left to apply to do a PhD in my new group in Oxford! @HumanGeneticsOx @NDMOxford @UniofOxford Apply here: ndm.ox.ac.uk/investigating-… Deadline: Monday (20th July) See thread below for more details 👇

Nicky Whiffin@nickywhiffin

**Postdoc & PhD opportunities** Interested in using large genomic datasets to discover and analyse non-coding variants that cause rare diseases? Come work @HumanGeneticsOx @UniofOxford whiffinlab.org/join-us Please share and RT! But why should you join my team? A thread 1/4

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Laurent Francioli retweetledi

Konrad Karczewski@konradjk·27 May

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…

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Laurent Francioli@LFranciol·27 May

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…

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Keşfet

@Nature @nickywhiffin @GenomicsEngland @cureffi @broadinstitute @MGHNeurology @harvardmed @JRosand_MD