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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
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a … involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a …
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 … While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others … heart disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They may just be "tagging along" with the actual causal variants. For this reason, researchers often need to take …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this … spectrum of symptoms of the disorders and the associated genomic variants. “Genomics has the potential to change …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … in Nature Communication , will help researchers assess if variants associated with dog body structure, behavior and … sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… NIH findings may help researchers understand how genomic variation can affect behavioral differences in … areas of the genome related to brain development harbor variants that may account for behavioral differences among … owners around the world. The researchers found that the genomic differences among dog breeds are related to the …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) … initiatives, including the Centers of Excellence in Genomic Science, genome-sequencing centers, and model … research) and to help implement and refine the practice of genomic medicine. There are extraordinary career …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… works towards systematic understanding of the effects of genomic variation on genome function and phenotype. Prior to … biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, Encyclopedia of DNA …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Polymorphism … Polymorphism involves one of two or more variants of a particular DNA sequence. … Base Pair, … of DNA. … Polymorphism involves one of two or more variants of a particular DNA sequence. … Educational Resources …