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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
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 exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … As genomic technologies have advanced and the cost of sequencing has decreased , it has become feasible to produce … consortium were incorporated into the Clinical Sequencing Exploratory Research ( CSER) consortium  Among other aspects …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… Architecture using Genomics and Epidemiology (PAGE) Consortium ( RFA HG-07-014  and RFA HG-07-015 ) was formed … In September 2013, the NHGRI announced new awards to four research groups representing six national cohorts and one … Ph.D. and Ulrike Peters, Ph.D., Fred Hutchinson Cancer Research Center Mount Sinai Biobank Program (MSSM Institute …
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.
… Hadjantonakis Sloan Kettering Institute for Cancer Research Johns Hopkins University School of Medicine Sloan … cell perturbation experiments coupled to single cell RNA sequencing. To analyze the downstream effects of … methods for discovering genotype to phenotype mappings for clinical applications; for both rare and complex diseases, …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … grants, which total approximately $14.5 million to eight research teams over two to four years as funds become … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome Research …
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.
… Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain sustainable genome … understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility. … The Model Organism Databases and Gene …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Oncology Transfusion Medicine Translational Addiction Research Urologic Oncology … The NIH Clinical Electives … concepts in clinical genetics Learn about genomic sequencing and management of genetic disorders Participate in …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … The first phase of the network, IGNITE I , was a consortium of collaborative genomic medicine pilot … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts …