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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
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… phenotyping protocols to advance the clinical impact of genomic medicine. … The NHGRI Reverse Phenotyping Core … a shared service to NHGRI investigators to facilitate genomic ascertainment-based clinical research. The core aims to develop a new paradigm of genomic research in which phenotypic ascertainment bias 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.
… and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project … consent to be re-contacted will participate in TGAC. The Genomic Ascertainment Cohort (TGAC) offers a … from genotype - one of the key underpinnings of predictive genomic medicine." NHGRI will host the database and …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… understanding of genome function and inform the use of genomic information in medical care.” After nearly two …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical signs and symptoms. The … patient came to our clinic, we found their disease-causing genomic variant and looked for other patients with the same … dysplasia, a rare disorder that is caused by a genomic variant in a specific receptor and characterized by …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… actively participating in the development of international genomic resources including the HapMap, the 1,000 Genome and … of strong linkage disequilibrium. CRGGH continues to use genomic data generated in African populations to refine and … from sub-Saharan Africa (SSA). This project will inform genomic studies in SSA by providing a reference for allelic, …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… aims to capitalize on growing availability of large-scale genomic and health record data worldwide to advance the … evaluate next-generation healthcare that uses cutting-edge genomic and informatic tools to improve the diagnosis, … Metabolic Genetics Branch, who has extensive experience in genomic medicine research. Also joining the program will be …
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.
… study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the … the genes are in the same pathway, so we know that the genomic variants affecting that pathway contribute to the … impact on cerebrovascular risk. In many complex diseases, genomic variants often account for less than 5 percent of …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
News Release
The High School Scientific Training and Enrichment Program is one of four internship subprograms in the NIH Summer Internship Program in Biomedical Research.
… project on the motivations of participants enrolled in genomic research to assess expectations from clinical …