Roberts AM, DiStefano MT, Riggs ER, et al. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;26(2):101029. doi:10.1016/j.gim.2023.101029
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- This is Ó³»´«Ã½ Learn about our mission, our values, our history, and partner institutions.
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Research
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Science
- Patient-partnered research Patients partner with our scientists to accelerate the pace of discovery and find better treatments.
- Partnering and licensing We work closely with pharmaceutical, biotech, and technology partners to accelerate the translation of our discoveries.
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Centers
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- Carlos Slim Center for Health Research The Slim Center aims to bring the benefits of genomics-driven medicine to Latin America, gleaning new insights into diseases with relevance to the region.
- Gerstner Center for Cancer Diagnostics The Gerstner Center is developing next-generation diagnostic technology for cancer detection and tracking disease progression.
- Klarman Cell Observatory The Klarman Cell Observatory is systematically defining mammalian cellular circuits, how they work together to create tissues and organs, and are perturbed to cause disease.
- Merkin Institute for Transformative Technologies in Healthcare The Merkin Institute is supporting early-stage ideas aimed at advancing powerful technological approaches for improving how we understand and treat disease.
- Novo Nordisk Foundation Center for Genomic Mechanisms of Disease This center is developing new paradigms and technologies to scale the discovery of biological mechanisms of common, complex diseases, by facilitating close collaborations between the Ó³»´«Ã½ and the Danish research community.
- Eric and Wendy Schmidt Center The EWSC is catalyzing a new field of interdisciplinary research at the intersection of data science and life science, aimed at improving human health.
- Stanley Center for Psychiatric Research The Stanley Center aims to reduce the burden of serious mental illness by contributing new insights into pathogenesis, identifying biomarkers, and paving the way toward new treatments.
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Education and outreach
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- Art and science connection Explore the connection between art and science and how we bring together artists and Ó³»´«Ã½ scientists through our artist-in-residence program, gallery exhibitions, and ongoing public conversations.
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