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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
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the … approaches to adapting to the big data boom in genomics. "It's not much of a challenge to sequence a genome …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
Jobs at NHGRI
NHGRI is seeking a postdoc to join the Systems Biology and Genome Engineering Section in Bethesda, Maryland.
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development … on identifying genetic contributions to human disease. … Genomics is, fundamentally, a data science. Nucleic acids are … generation. The CGDSR embraces this data-centric view of genomics and leverages innovative computational and …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… the Human Genome Project and other major advances in genomics. … Anna Rogers: What accomplishments in your career … most excited about in the future of genome sequencing and genomics? Mullikin: I think new technologies will continue to … This would be a big change for the field. Right now, the genomics community is aiming to generate telomere-to-telomere …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big … is piecing together one of the most complex puzzles in genomics: the first truly complete human genome sequence. He … and innovations that are actively changing the face of genomics research. Phillippy, a senior investigator and …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… program, established in 2010 to speed the integration of genomics into clinical medicine, is funded by the National … and explaining results, the ethical issues involved in genomics are familiar, according to the study authors. "The … said Laurence McCullough, Ph.D., associate director for education, Dalton Tomlin Chair in Medical Ethics and Health …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) designed to help … research efforts and technologies in human genetics and genomics. Increasing their access to these resources will … to identify and fill the knowledge gap in genetics and genomics and their related technologies, in developing …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… a strategic planning effort to establish a 2020 vision for genomics aimed at accelerating scientific and medical … vision, NHGRI identified paradigm-shifting areas of genomics that will expand the field into new frontiers and … Worldviews Workshop June 10, 2002:  Summary of Workshop: Education and Public Outreach April 25-26, 2002: Summary of …