The Itan lab investigates human disease genomics for enhancing precision medicine. We aim to automate the accurate identification of disease-causing mutations, genes and pathways in next generation sequencing (NGS) genomes and exomes of patients. We develop new computational methods for detecting the functional outcome of mutations and for NGS data analyses, by applying diverse algorithms including machine learning, statistical genomics, natural language processing and computer simulations. We extensively use biological and genomic databases, such as Mount Sinai’s BioMe BioBank of exomes and electronic health records and the human gene mutation database.

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