Ali Torkamani, Ph.D.
Affiliations: | 2008 | Biomedical Sciences | University of California, San Diego, La Jolla, CA |
Area:
statistical genetics of neuropschiatric disordersGoogle:
"Ali Torkamani"Mean distance: 17.05 (cluster 11)
Parents
Sign in to add mentorNicholas Schork | grad student | 2008 | UCSD | |
(Accurate prediction of causative protein kinase polymorphisms in inherited disease and cancer.) |
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Publications
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Chia R, Sabir MS, Bandres-Ciga S, et al. (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics |
Bandres-Ciga S, Saez-Atienzar S, Kim JJ, et al. (2020) Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease. Acta Neuropathologica |
Deguchi H, Shukla M, Hayat M, et al. (2020) Novel exomic rare variants associated with venous thrombosis. British Journal of Haematology |
Salfati EL, Spencer EG, Topol SE, et al. (2019) Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Genome Medicine. 11: 83 |
Wells A, Heckerman D, Torkamani A, et al. (2019) Ranking of non-coding pathogenic variants and putative essential regions of the human genome. Nature Communications. 10: 5241 |
Dias R, Torkamani A. (2019) Artificial intelligence in clinical and genomic diagnostics. Genome Medicine. 11: 70 |
Kumar A, Thomas SK, Wong KC, et al. (2019) Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes. Nature Biomedical Engineering. 3: 137-146 |
Rubanovich CK, Cheung C, Torkamani A, et al. (2019) Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series. Pediatrics. 143: S44-S53 |
Lo Sardo V, Chubukov P, Ferguson W, et al. (2018) Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing. Cell |
Torkamani A. (2018) Drilling for Insight: Forecasting Phenotype from Genotype. Trends in Genetics : Tig |