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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … of high-quality tissue samples and information on gene expression — important resources that scientists needed …
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.
… LDACC work with AnVIL ? The LDACC will deposit data from gene expression and genotyping analyses in the AnVIL on a timely … Procurement Center (BPC) Supporting the Developmental Gene Expression (dGTEx) Project: John Ilekis, Ph.D. National …
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.
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … to develop standard processes for reviewing data about gene variants and their connections to health and disease. … for disease diagnosis and treatment. Information on the gene variants is stored in ClinVar, which is funded and …
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
… transporter as a regulator of the CLEAR gene network PB3384 Reuben M Buckley eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. PB1092 …
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.
… insights into the biological mechanisms underlying gene-by-smoking and gene-by-alcohol consumption interactions Prog Nbr 298 Amy … Extensive Differential cell type-specific gene expression and regulation by sex in human skeletal muscle …
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.
… profiles (such as the use different pharmaceuticals, gene-based therapeutics, and preventive strategies) as well …
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.
… Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for …
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.
… It almost never gets used. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest … grants is implementing what researchers learn about these gene variants into medical settings to improve patient care." … individuals for disease-causing variants in the LDLR gene, the leading genetic cause of premature coronary artery …