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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Green, M.D., Ph.D. … To productively use a long, blank (and boring) hallway near my office in Building 31 on the NIH … a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread in … study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … research was provided by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, … disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during middle …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring … need to learn more about how genes are controlled and how variants in these "controlling" regions of the genome are …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … expressed overall optimism about participating in human genome editing clinical trials, but were concerned about …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… Dr. Daniel Gilchrist joined the National Human Genome Research Institute's Extramural Research Program as a … a portfolio of grants focused on functional genomics and computational genomics and data science. He is also part … biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, Encyclopedia of DNA Elements, …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… two classes: those that are associated with a single gene and those that are influenced by multiple genes and … across the estimated 6 billion-letter code for their genome. Slight differences exist between individuals, making … each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. DNA is …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary findings explained, eligible protocols, and services offered … What should I consider before … by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The … data for the presence of possible actionable secondary variants. Any secondary variants found in the research data …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient … However, it is difficult to identify which sequence variants are relevant to disease. As a result, information on … M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… is helping us understand what makes each of us different and what makes us the same. … Did you know that at the base-pair level your genome is 99.9 percent the same as all of the humans around … today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is …