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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Office of Genomic Data Science
NHGRI is committed to increasing the availability of educational and research opportunities in computational genomics and data science (CGDS).
… cloud workspaces, tools, and services available on NHGRI's Genomic Data Science Analysis, Visualization, and Informatics … based CGDS analyses. Together, the Hub, Sites, and NHGRI’s Genomic Data Science Community Network will create a … the spectrum of institutions active in bioinformatics and genomic data science research. On several areas such as use …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… … What quickly became clear at the Global Leaders in Genomic Medicine meeting, held January 8-9 at the National … creating innovative programs and plans for implementing genomic medicine. … A goal of the two-day international … us has a vision of genomic information incorporated into healthcare delivery." Dr. Ginsburg clicked off a brief list …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and … including diverse and underserved populations, and in healthcare settings that extend beyond academic medical … of medicine, improve the discovery and interpretation of genomic variants, and investigate the impact of genome …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource … a major barrier to incorporating genomic medicine into healthcare, which is a lack of evidence about the …
News Release
Top genome scientists from over 20 countries have joined forces in an effort to improve cooperation and coordination of genomic medicine research worldwide.
… Jeannine Mjoseth … Translational genomic medicine research - the effort to turn genomic discoveries into tools and therapies to prevent, … delay or cure disease-is going global. … Global Leaders in Genomic Medicine On the heels of an international symposium …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with … heart disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians … to researchers as a standard reference for how the genomic make-up of people varies in populations and around …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine programs to explore the best ways to move … be used most effectively. Understanding and interpreting genomic variants poses one of the greatest challenges to …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … person's genome contains between three and four million genomic variants, which are specific changes in DNA sequence. … "Deciding which genomic variants are important players in disease is probably …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… health and disease, and seeks technologies that facilitate genomic discoveries. … Dr. Hutter comes to the position with … which generated over 2.5 petabytes of publically available genomic data used by the cancer research community to improve … genome science moves towards a fuller understanding of the genomic basis of human disease. She will be responsible for …
Research Funding
Coordinates activities across the Genome Sequencing Program components