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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
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… designs to better understand the general principles of genomic architecture underlying common, complex inherited …
Research Funding
Coordinates activities across the Genome Sequencing Program components
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across … structure, see: NIH genome sequencing program targets the genomic bases of common, rare disease . A brief history of … using a range of study designs and presumed underlying genomic architectures. Secondarily, the CCDGs will develop …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Awardee Institution Title Award Number Characterization Awards Jay Shendure Nadav Ahituv Martin Kircher University of … Medical Center Multiscale functional characterization of genomic variation in human developmental disorders HG011996 … Irvine California Institute of Technology Center for Mouse Genomic Variation at Single Cell Resolution HG012077 …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… As set out in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers … of the models and to learn how to improve the models. Five awards made in response to the GGR RFA will pursue different … biological systems. GGR projects are designed to advance genomic science towards the long-term goal of NHGRI research …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that … Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The centers define the …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… that features interviews with some of the most influential genomic scientists of the 20th and 21st centuries. The … August 4, 2022  Roundtable discussion: "Does genetic and genomic screening keep open the door to eugenics?" May 25, … a monograph-length study on the history of NHGRI human genomic variation programs from the Haplotype Map Project to …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… and achieving orders-of-magnitude improvements in genomic technologies are foundational efforts of the program. … collaborations, leads efforts to promote standards in genomic technologies, develops resources to share with the … Sharing To accelerate progress in the field of advanced genomic technology development, grantees will be required to: …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… effort to systematically explore the entire spectrum of genomic changes involved in human cancer.  The project then … the research community to use.  … NIH completes in-depth genomic analysis of 33 cancer types  (2018)  The Cancer … Study of Brain Tumors  (2008)  The Cancer Genome Atlas Awards Funds for Technology Development  (2007)  National …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This … Consortium resources serve as well-curated authoritative genomic compendia of diverse model organism annotations to … diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This …