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      5. Ó³»­´«Ã½@20 Ó³»­´«Ã½ turns 20 this year! See how we’re celebrating our 20th anniversary.
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      1. Disease areas Ó³»­´«Ã½ brings people together to advance the understanding and treatment of disease.
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          • Cancer
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      2. Research areas Through programs spanning genetics, biology, and therapeutic development, Ó³»­´«Ã½ researchers are making discoveries that drive biomedical science forward.
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      3. Technology areas Our researchers use their expertise in creating, adapting, and applying a variety of technologies to enable science here and beyond.
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      4. Science
        1. Patient-partnered research Patients partner with our scientists to accelerate the pace of discovery and find better treatments.
        2. Partnering and licensing We work closely with pharmaceutical, biotech, and technology partners to accelerate the translation of our discoveries.
        3. Publications A catalog of scientific papers published by our members and staff scientists.
        4. Resources, services, and tools Key scientific datasets and computational tools developed by our scientists and their collaborators.
        5. Collaborations and consortia We join with institutions and scientists the world over to address foundational challenges in science and health.
  • Centers
      1. 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.
      2. Gerstner Center for Cancer Diagnostics The Gerstner Center is developing next-generation diagnostic technology for cancer detection and tracking disease progression.
      3. 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.
      4. 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.
      5. 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.
      6. 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.
      7. 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.
  • Education and outreach
      1. 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.
      2. Ó³»­´«Ã½ Discovery Center Visit our free public educational space that showcases how researchers at the Ó³»­´«Ã½ and their colleagues around the world seek to understand and treat human disease.
      3. Learning resources Access free classroom materials and more for STEM educators, parents, students, tutors, and others.
      4. Public programs Discover remarkable stories of scientific progress, and explore the intersections of science, medicine, and society.
      5. Student opportunities Learn about Ó³»­´«Ã½'s mentored research offerings for high school students, college students, and recent college graduates.
      6. Visit Ó³»­´«Ã½ Come see what Ó³»­´«Ã½ is all about.
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      1. News and insights Learn about breakthroughs from Ó³»­´«Ã½ scientists.
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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M, Evani US, Zhao X, et al. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell. 2022;185(18):3426-3440.e19. doi:10.1016/j.cell.2022.08.004
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Reconstructing the Deep Population History of Central and South America.
Posth C, Nakatsuka N, Lazaridis I, et al. Reconstructing the Deep Population History of Central and South America. Cell. 2018;175(5):1185-1197.e22. doi:10.1016/j.cell.2018.10.027
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Munoz EA, Milko LV, Harrison SM, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39(11):1614-1622. doi:10.1002/humu.23645
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630
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Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018;39(11):1525-1530. doi:10.1002/humu.23642
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ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Dolman L, Page A, Babb L, et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat. 2018;39(11):1686-1689. doi:10.1002/humu.23625
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison SM, Dolinksy JS, Chen W, et al. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018;39(11):1641-1649. doi:10.1002/humu.23643
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ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett A, et al. ClinGen’s GenomeConnect registry enables patient-centered data sharing. Hum Mutat. 2018;39(11):1668-1676. doi:10.1002/humu.23633
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GENCODE reference annotation for the human and mouse genomes.
Frankish A, Diekhans M, Ferreira AM, et al. GENCODE reference annotation for the human and mouse genomes. Nucleic Acids Res. 2019;47(D1):D766-D773. doi:10.1093/nar/gky955
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Mahajan A, Taliun D, Thurner M, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet. 2018;50(11):1505-1513. doi:10.1038/s41588-018-0241-6
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In March of 2020, Ó³»­´«Ã½ converted a clinical genetics processing lab into a large-scale COVID-19 testing facility in less than two weeks.

We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap).

Ó³»­´«Ã½ Genomics Platform sequences a whole human genome every four minutes.

More than 11,000 individuals living with cancer in the United States and Canada have partnered with Count Me In to share their experiences and help accelerate cancer research.

The Drug Repurposing Hub is one of the most comprehensive and up-to-date biologically annotated collections of FDA-approved compounds in the world. Researchers anywhere can explore more than 6,000 drugs in the hub and search for possible new uses for them to jump-start new drug discovery.

In 2021, our sustainability efforts sent more than 80 percent of waste from the Genomics Platform to either a recycling facility or to an incineration plant that generates electricity.

Through Ó³»­´«Ã½'s Scientists in the Classroom program, Ó³»­´«Ã½ researchers visit every 8th grade classroom in Cambridge each year to talk about genetics and evolution.

Every summer, 18 high school students spend six weeks at Ó³»­´«Ã½ working side-by-side with mentors on cutting-edge research.

In November 2022, Ó³»­´«Ã½â€™s Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th.

By the end of 2022, Ó³»­´«Ã½â€™s COVID-19 testing lab had processed more than 37 million tests.

Working with Addgene, Ó³»­´«Ã½ has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries.

The NeuroGAP-Psychosis project, a collaboration between the Stanley Center for Psychiatric Research and Harvard T.H. Chan School of Public Health to study the genetics of severe mental illness, has recruited more than 42,000 participants in Ethiopia, Kenya, Uganda, and South Africa.

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