Jonathan Sebat

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Jonathan Sebat

Jonathan Sebat

@sebatlab

From DNA to the brain. Occasionaly fatherhood, cycling, indie rock. No, Dad will not turn his music down.

La Jolla, CA Katılım Ekim 2014
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Jonathan Sebat
Jonathan Sebat@sebatlab·
Very pleased to announce our paper—Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism— is now published in Cell Genomics cell.com/cell-genomics/…
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Adam Auton
Adam Auton@adamauton·
New opportunity at 23andMe Research Institute! We're looking for a new team member to help us build and deliver clinically useful risk prediction models that can be deployed to consumers and clinicians. 23andme.wd5.myworkdayjobs.com/en-US/23/detai…
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Jonathan Sebat
Jonathan Sebat@sebatlab·
Very pleased to announce our paper—Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism— is now published in Cell Genomics cell.com/cell-genomics/…
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Jonathan Sebat
Jonathan Sebat@sebatlab·
@nanopore @PacBio H2 explained by rare variants will continue to creep upwards as we are able to infer their functional effects. As you can see THAT functional inference is what we really gain from long reads
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Jonathan Sebat
Jonathan Sebat@sebatlab·
@nanopore @PacBio For you heritability nerds, we did quantify the heritability explained by rare variants in the combined SR-WGS and LR-WGS. The H2 explained by rare SNVs, SVs and TRs was 7% [4%–25%] but we need a much larger sample to get an accurate estimate.
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NEJM
NEJM@NEJM·
A video shows a patient with Dravet syndrome performing activities of daily living before and after treatment with zorevunersen. Watch the full video and read the full report: nejm.org/doi/full/10.10…
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PGC Consortium
PGC Consortium@PGCgenetics·
Check out these two 💫amazing #WomenInSTEM💫, Hyejung Won (Univeristy of North Carolina) and Ofure Okoh (Max Planck Institute)
PGC Consortium tweet mediaPGC Consortium tweet mediaPGC Consortium tweet mediaPGC Consortium tweet media
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Rich Law
Rich Law@drrichjlaw·
A "team of AI agents", via clinicaltrials.gov found that drugs targeting cell-type-specific genes were 40% more likely to advance from Phase I to Phase II, 48% more likely to eventually reach the market, & had about 1/3rd fewer adverse events. $XBI biorxiv.org/content/10.648…
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Jason Shepherd
Jason Shepherd@JasonSynaptic·
Whelp...got selected for jury duty! First time.
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