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Ali Torkamani

Scripps Translational Science Institute

Director of Genome Informatics

3344 North Torrey Pines Court

Suite 300

La Jolla, CA 92037

United States

SCHOLARLY PAPERS

4

DOWNLOADS

339

TOTAL CITATIONS

2

Scholarly Papers (4)

1.

A Two-Stage Machine Learning Approach for Personalized Type 2 Diabetes Screening Across Diverse Populations

Number of pages: 32 Posted: 24 Dec 2024
Scripps Translational Science Institute, Scripps Translational Science Institute, Scripps Translational Science Institute, Scripps Translational Science Institute and Scripps Translational Science Institute
Downloads 152 (488,442)

Abstract:

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Type 2 Diabetes Mellitus, Polygenic Risk Score, Machine Learning, Risk Prediction, Early Detection, Personalized Screening, All of Us Research Program, UK Biobank, Precision Medicine, Population Heterogeneity

2.

Returning Results to Family Members: Professional Duties in Genomics Research in the United States

Journal of Legal Medicine, Forthcoming, San Diego Legal Studies Paper No. 18-329
Number of pages: 20 Posted: 12 Feb 2018 Last Revised: 15 Feb 2018
Dov Fox, Emily Spencer and Ali Torkamani
University of San Diego: School of Law, Scripps Translational Science Institute and Scripps Translational Science Institute
Downloads 99 (694,528)

Abstract:

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duties to warn, genomic medicine and research, health risks and uncertainties

3.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Number of pages: 84 Posted: 11 Aug 2020
National Institute on Aging - Neuromuscular Diseases Research Section, National Institutes of Health - Neuromuscular Diseases Research Section, National Institutes of Health - Computational Biology Core, Columbia University - Department of Pathology and Cell Biology, Boston University - Chronic Traumatic Encephalopathy Center, National Institutes of Health - Neuromuscular Diseases Research Section, National Institute of Neurological Disorders and Stroke - Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke - Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke - Neurodegenerative Diseases Research Unit, Queen Mary University of London - Clinical Pharmacology, Queen Mary University of London - Clinical Pharmacology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Scientific Directorate, Lund University - Division of Clinical Sciences Helsingborg, Lund University - Division of Clinical Sciences Helsingborg, Lund University - Clinical Memory Research Unit, Independent, Independent, Independent, Independent, Independent, Independent, Independent, Independent, University of Cambridge - MRC Cognition and Brain Sciences Unit, IRCCS Centro San Giovanni di Dio Fatebenefratelli - Molecular Markers Laboratory, IRCCS Centro San Giovanni di Dio Fatebenefratelli - Molecular Markers Laboratory, IRCCS Centro San Giovanni di Dio Fatebenefratelli - Molecular Markers Laboratory, University College London - Department of Molecular Neuroscience, Uniformed Services University of the Health Sciences - Department of Anatomy, Physiology and Genetics, Emory University - Department of Neurology, Government of the United States of America - Center for Alzheimer's and Related Dementias (CARD), University of Massachusetts Worcester - Department of Neurology, Mayo Clinic - Department of Neuroscience, University College London - Department of Molecular Neuroscience, Scripps Translational Science Institute, National Institute on Aging - Translational Gerontology Branch, Government of the United States of America - Translational Gerontology Branch, National Institute on Aging (NIA) - Laboratory of Behavioral Neuroscience, The University of Manchester - Faculty of Human and Medical Sciences, Boston University - Department of Neurology, VA Boston Healthcare System - Department of Neurology, University College London - Department of Neurodegenerative Disease, University of Pennsylvania - Department of Pathology and Laboratory Medicine, Columbia University - Department of Pathology and Cell Biology, Columbia University - Department of Neurology, University College London - Department of Clinical and Movement Neurosciences, University College London - Department of Molecular Neuroscience, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, National Institute on Aging (NIA) - Computational Biology Group, Uniformed Services University of the Health Sciences - Department of Anatomy, Physiology and Genetics, National Institute of Neurological Disorders and Stroke - Neurodegenerative Diseases Research Unit and University of Massachusetts Worcester - Department of Neurology
Downloads 61 (951,658)
Citation 2

Abstract:

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amyotrophic lateral sclerosis, frontotemporal dementia, Lewy body dementia, Huntington’s disease, whole-genome sequencing, huntingtin, repeat expansions

4.

Identification of an N-Acetylneuraminic Acid-Presenting Bacteria Isolated from a Healthy Human Microbiome

Number of pages: 31 Posted: 05 Oct 2020
The Scripps Research Institute - Department of Molecular Medicine, The Scripps Research Institute - Department of Molecular Medicine, University of California, San Diego - San Diego Supercomputer Center, The Scripps Research Institute - Department of Immunology and Microbiology, Scripps Translational Science Institute, The Scripps Research Institute - Department of Immunology and Microbiology and The Scripps Research Institute - Department of Molecular Medicine
Downloads 27 (1,359,097)

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sialic acid probe, microbiome, metabolic labeling, E. coli