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These studies include both clinical and population genetic projects. He has developed novel tools and approaches for the mapping and identification of genetic variants underlying both Mendelian and non-Mendelian diseases. For example, he contributed to the cloning of genes for torsion dystonia and hemochromatosis. He defined admixture mapping in ethnically admixed populations as a tool for gene discovery and has applied it to such diseases as hypertension and lipidemia. In collaboration with his colleague Kathleen Merikangas, he proposed genome-wide association studies as the next generation tool after linkage analysis for identifying novel disease susceptibility variants; this approach, now applied on a large scale, has identified thousands of novel disease and trait-related genetic variants. Over the past decade, Dr. Risch has collaborated with colleagues at Kaiser Permanente Northern California Division of Research (where he holds an adjunct appointment) to develop a large cohort combining electronic health record information with environmental and genomic data for genetic epidemiology research related to aging. The cohort contains approximately 110,000 individuals with genome-wide genotype and telomere length data, and has been the basis for a variety of genetic studies related to cardiovascular, metabolic and cancer outcomes
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npj Genomic Medicineno. 1 (2024): 1-14
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medRxiv (Cold Spring Harbor Laboratory) (2021)
Brian Lu, Laura Sun, Manuel Seraydarian,Thomas J Hoffmann,Marisa W Medina,Carlos Iribarren,Ronald M Krauss,Neil Risch,Akinyemi Oni-Orisan
CLINICAL PHARMACOLOGY & THERAPEUTICSno. 3 (2021): 733-740
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