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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
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… Steven Benowitz … While the latest genome sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … estimate that each person's genome contains between three and four million genomic variants, which are specific changes …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… approaches for searching among millions of genomic variants to find those that make a difference in disease … or in other traits. The awards are for three years each and total approximately $13 million, pending the availability … of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue … struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more … with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program is …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Mjoseth … Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large … the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To address … of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and Randomized … researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… the most recent 'polar vortex' becoming a distant memory and with baseball's spring training now in full swing, we … intended to commemorate the completion of the Human Genome Project in 2003 and the discovery of DNA's … challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… … The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … and CMG programs aim to discover the genes and genomic variants - spelling differences in DNA - that cause or …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an … in the Office of the Clinical Director, National Human Genome Research Institute. "The toolset we developed …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… National 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 ( ClinGen ) and ClinVar programs address a …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk … disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic … on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study …