Publications:142
Yuval Itan, PhD
About Me
Dr. Yuval Itan is an Associate Professor in the Department of Genetics and Genomic Sciences, a core member of The Charles Bronfman Institute for Personalized Medicine, and a member of Mindich Child Health and Development Institute, at the Icahn School of Medicine at Mount Sinai in New York City.
The main focus of the Itan lab is investigating human disease genomics for enhancing precision medicine, by developing new machine learning and computational methods to detect disease-causing variants and genes in next generation sequencing data of patients, and by performing cases-controls genome- and phenome-wide studies of patient cohorts across diverse human populations to identify new genetic etiologies of human diseases.
The Itan lab applies and combines diverse approaches across computer science and biology, including machine learning, natural language processing, bioinformatics, statistical genomics, modelings and simulations, and population genetics.
Language
English
Position
ASSOCIATE PROFESSOR | Artificial Intelligence and Human Health, ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
Research Topics
Bioinformatics, Biomedical Informatics, Biomedical Sciences, Biostatistics, Cardiovascular, Clinical Genomics, Computational Biology, Computer Simulation, Coronavirus, Epidemiology, Evolution, Gastroenterology, Gene Discovery, Genetics, Genomics, Immune Deficiency, Infectious Disease, Inflammatory Bowel Disease (IBD), Mathematical Modeling of Biomedical Systems, Mathematical and Computational Biology, Neural Networks, Obesity, Parkinson's Disease, Personalized Medicine, Proteomics, Sequence Alignment, Systems Biology, Technology & Innovation, Theoretical Biology, Translational Research
Multi-Disciplinary Training Areas
Artificial Intelligence and Emerging Technologies in Medicine [AIET], Genetics and Genomic Sciences [GGS]
Education
BSc, Bar-Ilan University
PhD, University College London
Postdoc, The Rockefeller University
Research
Gain-of-function (GOF) and loss-of-function (LOF) mutations in the same gene result in different diseases and require different treatment. We aim to develop the first computational method to efficiently predict if a mutation is GOF, LOF or neutral by: (1) creating the first extensive GOF and LOF database by extracting data with natural language processing (NLP) algorithm on abstracts of known pathogenic mutations; (2) applying statistical and feature selection approach to detect protein-level and gene-level features that best differentiate GOF from LOF and neutral mutations; and (3) developing a Random Forest classifier and a public server to predict the functional consequence of mutations. We use Phenome-Wide Associations (PheWAS) on Mount Sinai’s BioMe resource for validating our resource and detect novel GOF/LOF phenotypes.
Publications
Selected Publications
- Inherited burden for disease predisposition in diverse populations. Barış Kayaalp, Meltem Ece Kars, Yuval Itan, Ayşe Nazlı Başak, Jean Laurent Casanova, Tayfun Özçelik. npj Genomic Medicine
- Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease. Daniel R. Schecter, Rory J. Tinker, Patrick O'Connell, Jiuhong Pang, Simon SzeKing Lee, Meltem Ece Kars, Aysegul Guvenek, Michael Preuss, Yuval Itan, Eva Morava, Tamas Kozicz, Michio Hirano, Ali Naini, Jaya Ganesh. Kidney International Reports
- Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support. Yael Pinchevsky Itan, Yuval Itan. Genes
Industry Relationships
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Itan has not yet completed reporting of industry relationships or has no industry relationships to report.
Mount Sinai’s faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.