Shay Tzur
@ExomeAnalysis
Ph.D. bioinformatics scientist. Co-founder and CSO of @emedgene, acquired by @illumina. Interested in clinical genomics. My own opinion
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Our new paper selected as Editor’s Choice in @GIMJournal, @Illumina and @BaylorGenetics publication presents an #AI model for genome interpretation. The model demonstrates 97% accuracy in prioritizing variants across a cohort of 180 exome cases.
#Machinelearning model for automating variant prioritization is highly accurate compared to manual #variantinterpretation. #Artificialintelligence #precisionmedicine @illumina bit.ly/3ZsKtKM
1/14 ⚠ TW: Sexual Violence. The most detailed report on the sexual crimes committed during & after the Oct 7 massacre is out. The Dinah Project reveals Hamas terrorists used rape, gang rape & sexual torture systematically. This is hard to read, but vital. 🧵
15 years ago, a mystery group of ancient humans called the Denisovans was identified - purely from their DNA. This is the first confirmed Denisovan skull: it shows us what their faces were like. @NewScientist newscientist.com/article/248482…
Our lab at the Weizmann Institute was hit tonight by Iran We will rebuild and return 💪
I want to tell you a story about computers, creativity and awe! (1/N)🧵 Sydney Brenner once said in 2012 that “nobody has actually read the human genome. I mean, computers have processed the human genome, but we all know computers are stupid.” (This is a talk I gave last week..)
Honored to give a talk on KidneyGenAfrica, our exciting work on kidney function genetics in 110K Africans Identified 9 novel loci Distinct APOL1 allele patterns in African vs. AFR American groups Enhanced disease prediction using PRS tailored to African diversity #ASHG24
📢 New preprint alert: We’ve just published a deep dive into the role of tandem repeats (#TRs) in single-cell gene expression across the immune system, using #WGS and #scRNA-seq data from 1,790 individuals and over 5 million blood cells! 🧬 🧵👇 #repeats #SingleCell 1/9
6:29AM October 7, 2023. The moment time stopped. Beeri. Nahal Oz. Nir Oz. Reim. The Nova Festival. Kfar Aza. Sderot. Ofakim. Nirim. Holit. Zikim. Ashkelon. We remember the victims. We pray for the return of the hostages. #RememberOctober7
RT @FranMartinezGr: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa #RareDisease #Genetics #morbidgene cell.com/ajhg/fulltext/…
Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd
Our new arXiv paper: We built a generative AI model of blood glucose levels from 10 million continuous glucose monitoring measurements of 11,000 people from the Human Phenotype Project We show that our model can predict clinical parameters such as liver-related parameters, blood…
Happy to share our multicenter analysis- CAR T therapy in Richter's transformation shows a 57% response rate and 9.9 months median OS. Efficacy is lower than de novo LBCL and transformed iNHL. Toxicities are similar. #CART #CLL #Lymphoma @Haematologica haematologica.org/haematologica/…
The 2023 Turing award, often referred to as the Nobel prize for computing, goes to Avi Wigderson for his work on understanding how randomness can improve computer algorithms. newscientist.com/article/242591…
I am horrified by what I saw in Kfar Aza today.
Eric and Ruth have been murdered. Their bodies were identified today.
Among the Israelis feared dead or kidnapped by Hamas after the music festival massacre: Eric Perez and his daughter Ruth, who suffers from muscular dystrophy, is fed by a tube and bound to a motorized wheelchair. Witnesses have last seen Eric running away with Ruth in his arms
Ruth, a girl with cerebral palsy, and her dad Arik (whom I met) among the 1400 brutally murdered by Hamas. Arik took care of her with total devotion and made sure she experienced life to its fullest, despite the difficulties. No mercy shown @TheACMG @GeneticsSociety
She was a 16-year-old girl with muscular dystrophy and cerebral palsy who fought to live life to the fullest despite everything. Her loving father, Arik, took her to a party. The music, the people, the energy always made her soul gleam. But Hamas terrorists took that soul away.…
Just found out my friend got murdered in his house together with his wife and all his kids. He was a very good man who helped anybody as a principle, even if you weren't close with whatever you might need. A real Kibbutznik. I am broken. Everybody around me getting similar news.
3-year impact of Israeli national program funding #exomesequencing for global developmental delay in a single tertiary hospital @karinweiss_lab #GIMOpen bit.ly/3KR2UnU
Our work describing the recessive coding contribution to developmental disorders across genetic ancestry groups is on medRxiv! We combined research (Deciphering Developmental Disorders) and industry (@GeneDx) data to look at the effect of recessive variants in 29,745 trios! (1/)
Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations medrxiv.org/cgi/content/sh… #medRxiv
Happy to share a new paper: "Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel" jmg.bmj.com/content/early/… Thread->
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