Ali Torkamani, PhD

Director of Genome Informatics, Scripps Research Translational Institute
Department of Integrative Structural and Computational Biology


Scripps Research Joint Appointments

Scripps Translational Science Institute
Department of Molecular and Experimental Medicine
Graduate Program
Faculty, Graduate Program

Research Focus

Dr. Torkamani’s research covers a broad range of areas centered on the use of genomic technologies to identify the genetic etiology and underlying mechanisms of human disease in order to define precision therapies for diseased individuals. Major focus areas include human genome interpretation and genetic dissection of novel rare diseases, predictive genomic signatures of response to therapy – especially cancer therapy, and novel sequencing-based assays as biomarkers of disease.


Ph.D. (Biomedical Sciences), University of California, San Diego, 2008
B.S. (Chemistry), Stanford University, 2003

Professional Experience

2017-2017 Assistant Professor of MEM (Joint Appointment), Translational Institute, Scripps Research
2017-2017 Assistant Professor of MEM (Joint Appointment), Integrative Structural and Computational Biology (ISCB), Scripps Research
2017-2017 Assistant Professor of MEM, Molecular Medicine, Scripps Research
2013-2017 Assistant Professor of MEM, Integrative Structural and Computational Biology (ISCB), Scripps Research
2007-2017 Assistant Professor, Translational Institute, Scripps Research
2007-2012 Assistant Professor of MEM, Molecular and Experimental Medicine (MEM), Scripps Research

Awards & Professional Activities

Blasker Science and Technology Award
Mario r. Alvarez Foundation Award
Donald C. and Elizabeth M. Dickinson Foundation Fellowship
National Institute of Health, Genetics Predoctoral Training Grant
Bing Foundation Chemistry Research Fellowship

Selected References

All Publications

Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy.  Ann Neurol. 2014 Oct;76(4):529-40.

Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9.

Wang F, Ekiert DC, Ahmad I, Yu W, Zhang Y, Bazirgan O, Torkamani A, Raudsepp T, Mwangi W, Criscitiello MF, Wilson IA, Schultz PG, Smider VV. Reshaping antibody diversity. Cell. 2013 Jun 6;153(6):1379-93.

Malyshev DA, Dhami K, Quach HT, Lavergne T, Ordoukhanian P, Torkamani A, Romesberg FE. Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet. Proc Natl Acad Sci U S A. 2012 Jul 24;109(30):12005-10.

Zhang H, Torkamani A, Jones TM, Ruiz DI, Pons J, Lerner RA. Phenotype-information-phenotype cycle for deconvolution of combinatorial antibody libraries selected against complex systems. Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13456-61.

Komori HK, LaMere SA, Torkamani A, Hart GT, Kotsopoulos S, Warner J, Samuels ML, Olson J, Head SR, Ordoukhanian P, Lee PL, Link DR, Salomon DR. Application of microdroplet PCR for large-scale targeted bisulfite sequencing. Genome Res. 2011 Oct;21(10):1738-45.

Torkamani A, Schork NJ. Identification of rare cancer driver mutations by network reconstruction. Genome Res. 2009 Sep;19(9):1570-8.

Torkamani A, Topol EJ, Schork NJ. Pathway analysis of seven common diseases assessed by genome-wide association. Genomics. 2008 Nov;92(5):265-72.


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