Konrad Karczewski @konradjk
Assistant Professor at MGH and the Broad Institute, gnomAD aficionado, Co-author: Exploring Personal Genomics: https://t.co/MthdVXP0xz konradjkarczewski.com Boston, MA Joined March 2009-
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gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1
Amazing opportunity to work with an amazing team. I would highly recommend this role to anyone qualified (I have worked closely with those in this role, although you could see that as a pro or a con). We’ll miss you @danking00! So much science powered by @hailgenetics!
Amazing opportunity to work with an amazing team. I would highly recommend this role to anyone qualified (I have worked closely with those in this role, although you could see that as a pro or a con). We’ll miss you @danking00! So much science powered by @hailgenetics!
At last it is public! I'm stepping down as manager of the @hailgenetics & we seek a new engineering manager to lead the team as sequencing datasets continue to double! Please share widely! Know a burnt out bigco manager seeking an academic vibe? broadinstitute.wd1.myworkdayjobs.com/broad_institut… 0/7
As genomic analyses scale to millions of exomes/genomes, we need a scalable infrastructure to process/QC the data while retaining all the metrics needed for downstream analysis. A new preprint from the Hail team proposes a way to do this! Comments welcome: biorxiv.org/content/10.110…
And a great companion paper from @ksamocha and crew on compound heterozygotes in @gnomad_project
And a great companion paper from @ksamocha and crew on compound heterozygotes in @gnomad_project
Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease. nature.com/articles/s4158…
Great coverage of our work by @MassGeneralNews: massgeneral.org/news/press-rel…
Great coverage of our work by @MassGeneralNews: massgeneral.org/news/press-rel…
Veera Rajagopal @doctorveera
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Genome Aggregation Da.. @gnomad_project
2K Followers 15 Following The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI
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ELSIhub | CERA @ELSIhub
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50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
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1K Followers 148 Following Understanding the consequences of genomic variation in human disease.
Genome Aggregation Da.. @gnomad_project
2K Followers 15 Following The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI
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Projects like this can’t be completed without many others: thanks especially to @dalygene for continued mentorship across the years; critical support and work from @AnneOtation, @konradjk, @pedjagogue; the @hailgenetics team; and everyone associated with @gnomad_project. /end
@konradjk Great work! Is the full list of LD-independent loci within each ancestry publicly available? Thanks.
@konradjk @amara_shaukat Thanks for doing this. The data look very nice and will be very useful to many.
Thrilled to be visiting the fantastic @CGM_MGH and meeting with his of friends and new next week!
@CGM_MGH welcomes @EimearEKenny next week for our Genomic Medicine Seminar Series!
@CGM_MGH welcomes @EimearEKenny next week for our Genomic Medicine Seminar Series!
It's been an incredibly joyous week of events: 1⃣ Our deep learning study on adipose tissue around the heart was published. 2⃣ The Lindt Store downtown is stocking Hazelnut again. 3⃣ I'll start residency at @BrighamMedRes in July (and @ksamocha & I will remain Celtics fans).
I just found out I got an academic promotion to full Professor! 😁☺️
Abstract Select: @konradjk from @MassGeneralNews showcases data from @AllofUsResearch including common and rare variant association testing in 250,000 whole genomes across diverse ancestry groups at @agbt 2024. #AGBT #AGBT24
Researchers from @CGM_MGH and colleagues find a new, efficient method to detect DNA sample contamination, in a @AJHGNews study. doi.org/10.1016/j.ajhg…
In a recent @Nature publication, researchers from @MGHMedicine @broadinstitute and colleagues revealed new regions of the human genome through a large-scale DNA sequence. Read more: massgeneral.org/news/press-rel… @konradjk
Amazing! We were just discussing the potential of leveraging the tree of life to help AI learn better in our group meeting this week. Now for someone to repeat this but for all genetics samples to see if you get equally good improvements in performance metrics! @konradjk ??
Introducing BioCLIP: A Vision Foundation Model for the Tree of Life imageomics.github.io/bioclip/ A foundation model that strongly generalizes on the tree of life (2M+ species), outperforming OpenAI CLIP by 18% in zero-shot classification, and supports open-ended classification over…
The first paper uses the gnomAD v3 callset of >75K whole genomes - first released back in 2019 - to explore patterns of variation across the non-coding parts of the human genome. More details in this thread by @konradjk: x.com/konradjk/statu…
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…
Massive congrats to everyone involved in both projects, especially @konradjk and @ksamocha for their leadership, and first authors @sc2643 and @MGoGuo. And a massive shout-out to @LFranciol, who played absolutely critical early roles in both projects. Delighted to have them out!
Awesome read
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…
Genomic non-coding constraint of haploinsufficient variation (Gnocchi)
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…
Absolutely excited to have our "Gnocchi" (Genomic NOn-Coding Constraint of Haplo-Insufficient variation) metric seen by the public @Nature! Use this full-text link rdcu.be/dsVX1 to see how it was cooked!!
Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…
@gnomad_project Delighted to see the gnomAD v3 papers out - these bring critical work as we explore the non-coding genome and better support variant co-occurrence data for variant classification.
@konradjk Congratulations, great creation💐
@konradjk I am really looking forward to reading this. Looks like great work.
That’s fantastic ! Looking forward to use it and apply it to gene discovery, especially in our #CAKUT and #FSGS projects! One caveat now, pronunciation of “gnocchi” .. my ears are already in cringe mode for butcheries as “g-nocci” or alike :)
We built a new metric we called gnocchi (genomic non-coding constraint of haploinsufficient variation), building on methods that find depletions of variation (natural selection), which we show can prioritize functional variation
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