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Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.
Wolf SM, Amendola LM, Berg JS, et al. Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet Med. 2018;20(5):545-553. doi:10.1038/gim.2017.137
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Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons.
Ichida JK, Staats KA, Davis-Dusenbery BN, et al. Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons. Development. 2018;145(22). doi:10.1242/dev.168617
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The critical needs and challenges for genetic architecture studies in Africa.
Martin AR, Teferra S, Möller M, Hoal EG, Daly MJ. The critical needs and challenges for genetic architecture studies in Africa. Curr Opin Genet Dev. 2018;53:113-120. doi:10.1016/j.gde.2018.08.005
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Capturing sequence diversity in metagenomes with comprehensive and scalable probe design.
Metsky HC, Siddle KJ, Gladden-Young A, et al. Capturing sequence diversity in metagenomes with comprehensive and scalable probe design. Nat Biotechnol. 2019;37(2):160-168. doi:10.1038/s41587-018-0006-x
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Functional genomics of stromal cells in chronic inflammatory diseases.
Slowikowski K, Wei K, Brenner MB, Raychaudhuri S. Functional genomics of stromal cells in chronic inflammatory diseases. Curr Opin Rheumatol. 2018;30(1):65-71. doi:10.1097/BOR.0000000000000455
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The intersection of genetic and chemical genomic screens identifies GSK-3α as a target in human acute myeloid leukemia.
Banerji V, Frumm SM, Ross KN, et al. The intersection of genetic and chemical genomic screens identifies GSK-3α as a target in human acute myeloid leukemia. J Clin Invest. 2012;122(3):935-47. doi:10.1172/JCI46465
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SynerClust: a highly scalable, synteny-aware orthologue clustering tool.
Georgescu CH, Manson AL, Griggs AD, et al. SynerClust: a highly scalable, synteny-aware orthologue clustering tool. Microb Genom. 2018;4(11). doi:10.1099/mgen.0.000231
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Genomic basis of atrial fibrillation.
Bapat A, Anderson CD, Ellinor PT, Lubitz SA. Genomic basis of atrial fibrillation. Heart. 2018;104(3):201-206. doi:10.1136/heartjnl-2016-311027
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Comparative Population Genomics Analysis of the Mammalian Fungal Pathogen .
Cissé OH, Ma L, Huang DW, et al. Comparative Population Genomics Analysis of the Mammalian Fungal Pathogen . mBio. 2018;9(3). doi:10.1128/mBio.00381-18
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Genomic epidemiology of the UK outbreak of the emerging human fungal pathogen Candida auris.
Rhodes J, Abdolrasouli A, Farrer RA, et al. Genomic epidemiology of the UK outbreak of the emerging human fungal pathogen Candida auris. Emerg Microbes Infect. 2018;7(1):43. doi:10.1038/s41426-018-0045-x
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Ó³»­´«Ã½'s gene-editing technologies—CRISPR-Cas9, base editing, and prime editing—are being tested in more than 25 clinical trials to treat or cure leukemias, rare genetic diseases, high cholesterol, and other conditions.

NIH-funded discoveries from the Ó³»­´«Ã½ are powering nearly 20 clinical trials from companies testing new treatments for diseases like cancer and heart disease.

Ó³»­´«Ã½ developed a technology — partly supported by NIH funding —  that can detect trace amounts of cancer DNA from blood tests and help cancer patients find out their risk of disease recurrence earlier.

Using NIH funding, the Ó³»­´«Ã½â€™s Rare Genomes Project has worked with more than 1,300 families from all 50 U.S. states to diagnose rare genetic diseases.

Ó³»­´«Ã½ Clinical Labs has directly partnered with tens of thousands of cancer patients to analyze their DNA and accelerate research.

During the COVID-19 pandemic, Ó³»­´«Ã½ launched a large-scale diagnostic testing lab that processed over 37 million tests and saved state and federal programs nearly $2 billion.

The Ó³»­´«Ã½'s Cancer Dependency Map helps cancer researchers and drug developers discover therapeutic targets for new cancer treatments.

gnomAD, a large human genetic variant reference database developed by the Ó³»­´«Ã½ with NIH funding, has contributed to over 13 million genetic disease diagnoses since its launch in 2014.

Datasets generated at the Ó³»­´«Ã½ were used to train AlphaGenome, a cutting-edge AI model from Google DeepMind that predicts how genetic variants affect gene regulation.

the FDA granted accelerated approval for a lung cancer drug that was developed with Ó³»­´«Ã½ science and is for patients who otherwise had few treatment options.

David Liu and his team used NIH funding to invent precise gene-editing technologies, including one that may vastly improve access to genetic therapies for patients with rare disease.

NIH-funded Ó³»­´«Ã½ research is shedding new light on the biological roots of many diseases, including Alzheimer’s, Parkinson’s, and Huntington’s disease.

Scientists with Ó³»­´«Ã½â€™s Stanley Center for Psychiatric Research have found key genetic factors for schizophrenia and bipolar disorder.

Ó³»­´«Ã½ scientists are using AI to design new antibiotics and other drugs, predict drug toxicity, and pinpoint genes, molecules, and cells that might be causing disease.

Ó³»­´«Ã½ Clinical Labs has sequenced nearly 900,000 whole human genomes, producing, on average, one human genome sequence every three minutes.

Ó³»­´«Ã½ Clinical Labs developed a new method for genome sequencing that costs 75 percent less than existing methods.

 Ó³»­´«Ã½ Clinical Labs is the largest genome sequencing center of its kind in the world.

Ó³»­´«Ã½ Clinical Labs has partnered with MyOme and Southern Research Institute in Birmingham, Alabama to provide free genetic tests to people in Alabama.

Ó³»­´«Ã½ Clinical Labs has partnered with Mass General Brigham and Everygene to provide no-cost genetic testing to people throughout the US with cardiomyopathy, a disorder that can cause sudden cardiac death.

Ó³»­´«Ã½ Clinical labs and Mass General Brigham used data from NIH’s All of Us program to develop a genetic test that predicts risk of eight different heart conditions. This test is now available to patients.

Thanks to NIH funding, Ó³»­´«Ã½ Clinical Labs is collaborating with scientists across the U.S. to sequence DNA from tens of thousands of children with cancer and birth defects to study common biological pathways.

Ó³»­´«Ã½ Clinical Labs holds the world record for fastest DNA sequencing, completing whole genome sequencing and analysis in less than four hours at their facility in Burlington, Massachusetts.

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