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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a single actual human or a representation of human genomic variation. A reference sequence provides researchers a set of … as new information becomes available (e.g., data about genomic variation). The HGP’s human genome sequence was the …
Educational Resources
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.
… Effect … The founder effect is the reduction in genetic variation that results when a small subset of a large … population is used to establish a new colony. … Genetic Variation, Population Genetics, Human Migration, Genes … A … effect, as related to genetics, refers to the reduction in genomic variability that occurs when a small group of …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Prabarna Ganguly, Ph.D. … The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. … $185 million over five years to the Impact of Genomic Variation on Function (IGVF) consortium, initiated …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Genomics … Population genomics is the application of genomic technologies to understand populations of organisms. … Gene, Genome, Genetic Variation, Allele, Founder Effect, Genetic Drift, HapMap, … … Population genomics is the large-scale application of genomic technologies to study populations of individuals. For …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… toward the major role played by genetics in shaping such variation in dogs. … The Power of Comparison In a new study, … sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable … in an animal model. The researchers propose that specific variation in LCORL may account for body size difference in …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… understanding of the relationship between human genetic variation and population differences in disease distribution, … a comprehensive staff and training program that uses genomic approaches to study human health and reduce and eliminate health disparities. … CRGGH uses genomic tools to understand the pathobiology of metabolic …
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 … in concert to advance knowledge connecting human genomic variation to human health. … Advancing Knowledge of Human …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service os provided by …
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 …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Base Pair, … polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA. … polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Educational Resources …