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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
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… learning and memory after birth. Noninvasive Prenatal Genomic Testing Since its incorporation into clinical care in … It is the largest and fastest growing assay in genomic medicine, and over ten million tests have been … a prenatal diagnosis of Down syndrome. … Prenatal Genomic Testing Turriff AE, Annunziata CM, Malayeri AA, Redd …
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 … the first such study from the African continent, and the database will be made available to the larger research …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… Her substantive work investigates the function of new genomic knowledge about common, complex health conditions … and behavioral research on the translation of emerging genomic technologies for health benefit. Since then, she has … to prepare for and optimally shape the diffusion of genomic information about common, complex health conditions …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
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 … from all breeds, particularly from Asia and Africa. The database is available online , and researchers can input …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the … alterations that confer disease susceptibility." Using genomic techniques, the researchers combed the T cell genome … types of data-the genetics of rheumatoid arthritis, a genomic feature of T cells, and the pharmacological effects …
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
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… similarities, we were instead taking advantage of shared genomic similarities that could help us discover a completely … Three middle-aged males had rare and potentially damaging genomic variants in the UBA1 gene, but each of the three … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
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 …
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.