Ali Torkamani, PhD
Professor
Department of Integrative Structural and Computational Biology
Director of Genome Informatics, Scripps Research Translational Institute
Research Focus
Dr. Torkamani is Professor at The Scripps Research Institute and Director of Genomics and Genome Informatics at the Scripps Research Translational Institute. Dr. Torkamani’s research centers on the use of genomic and informatic technologies to identify the genetic etiology and underlying mechanisms of human disease in order to define health risks and individualized interventions. Major focus areas include human genome interpretation, genomic discovery of novel rare diseases, comprehensive, genetically-informed machine- and deep-learning prediction of risk for common diseases, and digital communication genetically-informed disease risk. He has authored over 100 peer-reviewed publications as well as numerous book chapters and Medscape references, and his research has been highlighted in the popular press. Dr. Torkamani’s overall vision is to decipher that code in order to understand and predict interventions that restore diseased individuals to their personal health baseline.
Select Publications
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Torkamani, Ali; Bersell, K.; Jorge, B. S.; Bjork Jr., R. L.; Friedman, J. R.; Bloss, C. S.; Cohen, J.; Gupta, S.; Naidu, S.; Vanoye, C. G.; George Jr., A. L.; Kearney, J. A. De novo KCNB1 mutations in epileptic encephalopathy. Annals of Neurology 2014, 76, 529-540.
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Chen, Y. Z.; Friedman, J. R.; Chen, D. H.; Chan, G. C.; Bloss, C. S.; Hisama, F. M.; Topol, S. E.; Carson, A. R.; Pham, P. H.; Bonkowski, E. S.; Scott, E. R.; Lee, J. K.; Zhang, G.; Oliveira, Glenn M.; Xu, J.; Scott-Van Zeeland, A. A.; Chen, Q.; Levy, Samuel; Topol, Eric J.; Storm, D.; Swanson, P. D.; Bird, T. D.; Schork, Nicholas J.; Raskind, W. H.; Torkamani, Ali Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Annals of Neurology 2014, 75, 542-549.
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Wang, Feng; Ekiert, Damian C.; Ahmad, Insha; Yu, Wenli; Zhang, Yong; Torkamani, Ali; Torkamani, Ali; Raudsepp, Terje; Mwangi, Waithaka; Criscitiello, Michael F.; Wilson, Ian A.; Wilson, Ian A.; Schultz, Peter G.; Schultz, Peter G.; Smider, Vaughn V.; Bazirgan, Omar A. Reshaping antibody diversity.. Cell 2013, 153, 1379-93.
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Malyshev, Denis A.; Dhami, K.; Quach, H. T.; Lavergne, T.; Ordoukhanian, Phillip T.; Torkamani, Ali; Romesberg, Floyd E. Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet. Proceedings of the National Academy of Sciences of the United States of America 2012, 109, 12005-12010.
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Zhang, Hongkai; Torkamani, Ali; Jones, Teresa M.; Ruiz, D I.; Pons, Jaume; Lerner, Rich A. Phenotype-information-phenotype cycle for deconvolution of combinatorial antibody libraries selected against complex systems. 2011, 108, 13456-61.
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Komori-Occhicone, Heather K.; LaMere, Sarah A.; Torkamani, Ali; Hart, G. T.; Kotsopoulos, S.; Warner, J.; Samuels, M. L.; Olson, J.; Head, Steve; Ordoukhanian, Phillip T.; Lee, Pauline; Link, D. R.; Salomon, Daniel R. Application of microdroplet pcr for large-scale targeted bisulfite sequencing. Genome Research 2011, 21, 1738-1745.
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