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I am interested in understanding the genetic and biological causes of common diseases, in particular of type 2 diabetes, cardiovascular diseases, and related metabolic phenotypes. Towards this goal, I am developing and applying computational and statistical methods that integrate between genome-wide association and more recently sequencing studies of human populations, biological knowledge and large-scale functional genomics studies. Genome-wide association studies (GWAS) and meta-analyses have lead to the discovery of thousands of new genomic regions associated with hundreds of complex human diseases and traits. However, identifying the actual causal variants and genes in the associated regions, and the biological processes through which the associated variants and genes exert their effect on the given disease or trait is not trivial. Furthermore, a large fraction of the genetic basis of most complex diseases and traits has yet to be identified. Recent statistical studies suggest that a big portion of the missing heritability may be attributed to hundreds of genetic associations of modest effects that are hard to detect individually due to limited study sample sizes.
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The British journal of ophthalmologyno. 4 (2024): 599-606
Science translational medicineno. 731 (2024): eadg4517-eadg4517
Investigative ophthalmology & visual scienceno. 2 (2024): 35-35
Rishabh K. Singh, Yan Zhao, Tobias Elze,John Fingert, Mae Gordon,Michael A. Kass, Yuyang Luo,Louis R. Pasquale, Todd Scheetz,Ayellet V. Segre,Janey L. Wiggs,Nazlee Zebardast
JAMA OPHTHALMOLOGYno. 4 (2024): 356-363
Andrew R. Hamel,Wenjun Yan,John M. Rouhana,Aboozar Monovarfeshani,Xinyi Jiang,Puja A. Mehta, Jayshree Advani, Yuyang Luo,Qingnan Liang, Skanda Rajasundaram, Arushi Shrivastava, Katherine Duchinski,
Nature Communicationsno. 1 (2024): 396-396
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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medRxiv : the preprint server for health sciences (2023)
Molecular systems biologyno. 8 (2023)
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