
Yuval Itan
@ItanLab
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Human disease genomics, precision medicine and machine learning. Associate Professor at @IcahnMountSinai
New York, USA
Joined March 2018
Between 800,000 and 900,000 years ago, the population of human ancestors crashed, a 2023 Science study finds. The results suggest there were only ~1280 breeding individuals during the transition between the early and middle Pleistocene. https://t.co/vy25Wy1ryF
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Extremely proud to see this published in @JExpMed. Kudos to Marjon Wouters and thank you @alexbolze @ItanLab @ERC_Research and @FWOVlaanderen. Have a look:
New study from Wouters, @IsabelleMeyts et al. @KU_Leuven shows that next to biallelic deleterious mutations in ADA2, monoallelic dominant negative missense variants in ADA2 can also underlie ADA2 deficiency. https://t.co/XD4enSpaRa See video summary 🎥 https://t.co/Dq3WkXzmHV
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1/ 🧬Excited to share that our study entitled Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers led by @IsabelleMeyts, has been published in @JExpMed : https://t.co/WAuAuNfiLF
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Dogs are humanity's best friend—but how long has it been that way? 🐕 This Science study investigated ancient dog genomes, revealing a complicated genetic legacy that reflects a long, shared history with humans. Learn more on #InternationalDogDay: https://t.co/Bl2JcfNov0
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LDAK-KVIK is our new tool for mixed-model association analysis (MMAA) of quantitative and binary traits. LDAK-KVIK has the power of BOLT-LMM, but the computational demands of REGENIE. See the tweets below for more information.
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A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not): Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel
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Published today. Our review on Incomplete Penetrance. Four governing principles. Details here. 👇🏼@Columbia @KidsAtColumbia @ColumbiaGenDev
https://t.co/wsUI8ZHCTt
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Tracing the evolution of sequencing into the era of genomic medicine. #Sequencing #GenomicMedicine #Review @NatureRevGenet
https://t.co/OnyhCu5pLf
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.@alexisjbattle & co. from @AJHGNews' latest article developed GLEANR, a computational method to identify genetic pathways shared among complex traits, presenting it as a powerful tool for discovering both trait-specific and trait-shared pathways: https://t.co/rAy7GSXvtn
#ASHG
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PhD position opening in my lab! Grab your chance to dive into the genetics and pathophysiology of inborn errors of immunity and apply! @FWOVlaanderen @ERC_Research @Info4PI @KU_Leuven funded, in an international spirit.
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Google’s research on a Personal Health Large Language Model (PH-LLM) is now published in @NatureMedicine Magazine!
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A superb Review on a new syndromic IEI, due to GOF mutations in G protein-encoding GNAI2: MAGIS syndrome: Phenotypes, pathogenesis, and treatment
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Latest from us. Universal antiviral made! How? Transient gene therapy. Which genes? Only 10 suffice, out of thousands of antiviral host genes. How did we choose? Got inspired by patients and gene promoters. Read in detail 👇🏼
science.org
A human inborn error of immunity guided discovery and development of a prophylactic, mRNA-based antiviral.
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Gene-Set Enrichment Analysis and visualization on the web using EnrichmentMap: RNASeq. #GSEA #WebTool #RNAseq @BioinfoAdv
https://t.co/NGilNskfQi
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Our paper is now out in final form at Nature Genetics! For those who missed the preprint, we used large-scale Perturb-seq targeting transcription factors to push primary fibroblasts into diverse transcriptional states, including those observed in cell atlas studies.
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Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants https://t.co/Tdcx81Oa9f
nature.com
Nature - A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human...
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Parabricks, a genomics startup with the goal to GPU-accelerate NGS analysis, was acquired by @NVIDIA in 2019. The Parabricks team has recently published their body of work showing GPU-accelerated, universal analysis that supports a wide range of sequencing platforms - including
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Can LLMs predict the results of CRISPR screens in silico, before the experiment is run? A team led by Aly Khan, AI/ML head at #CZBiohubCHI, has built a scalable LLM-based prediction framework. Read the 📃 just accepted to #BioNLP workshop at @ACLMeeting! https://t.co/ihg2e7IcVu
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Our Japanese multi-omic immune cell atlas is out in @NatureGenet! We projected omics layers — from germline/somatic mutations to metagenomics — into single-cell space to uncover dynamic immune regulation. https://t.co/H5BRqlxi0M
nature.com
Nature Genetics - A single-cell multiomic immune cell atlas from 235 Japanese, including patients with COVID-19 and healthy individuals, linked with host genetics including germline and somatic...
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