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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
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… Virtual … Webinar: Ancient Genetic Clues into Modern Human Disease … Enter text here that will appear in Google Search …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … about gene variants and their connections to health and disease. These experts then determine what each variant might mean for disease diagnosis and treatment. Information on the gene …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… network is to better understand the genomic basis of disease and to tailor medical care to individual patients … to examine rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort … Pathogenicity Classification P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
…  We see a broad range of patients from hereditary cancer risk assessment, pharmacogenomics, carrier screening,DTC …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… in reproductive decision-making as well as facilitate disease risk modeling and population health genomics. Ideally, this …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… collect clinical data through Uniform DRAI (Uniform Donor Risk Assessment Interview) with the family. Is this good …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… which genes and genomic variants are relevant to human disease. NHGRI established the ClinGen consortium in 2013 to … works to identify which genes are associated with disease and which variants in those genes are … and guidelines for studies that evaluate polygenic risk scores. Researchers have used these ClinGen resources to …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… of cardiopulmonary function in patients with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical … of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 David Bernard Vitamin B12-deficient mice … an Alloimmunization Susceptibility Locus in Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy …