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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
News Release
The finding marks a new effort in conserving an ancient dog breed, with potential to inform human vocalization processes.
… within captive New Guinea singing dogs changed their genomic makeup by reducing the variation in the group's DNA. … singing dogs have most likely lost a large number of genomic variants that existed in their wild counterparts. This lack of genomic variation threatens the survival of captive New …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… M.D., M.D./Ph.D. and D.O. include: Medical Genetics and Genomic Medicine Residency Program Maternal Fetal Medicine …
Event
On November 18, 2021, NHGRI will host an NIH Genomics and Health Disparities Special Interest Group lecture, "NIH Approach to Inclusive Excellence - The COSWD Viewpoint" by Marie A. Bernard, M.D.
… NIH thought regarding the science of scientific workforce diversity, assuring that the full range of talent is accessed … and 2019), including the NIH Director’s award for Equity, Diversity, and Inclusion in 2020. … About Dr. Bernard … The … Bernard, M.D., NIH Chief Officer for Scientific Workforce Diversity (COSWD). As COSWD, she leads the NIH science of …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… to try to pinpoint if Rohith's condition was caused by a genomic mutation and, if so, where in his genome it lay. The … Clinical Center staff. "The genes that turned up in the genomic analyses of the disease we focus on belong to … diagnostic odyssey ends at the NIH Clinical Center … Genomic analyses turned up genes that belong to inflammatory …
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.
… Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell Optimizing … in patients with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All …
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.
… Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples … utility returning of all types of medically relevant genomic sequencing findings: An observational study P712 A …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as … admixture in the population to uncover true links between genomic variants and traits.” To look at European genetic … and European Americans in the U.S., capturing ancestral diversity not seen in other large catalogs of human genomic …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… achievements include identifying numerous genes and genomic variants that confer risk for lung cancer and …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… human genome sequences, captures significantly more human diversity than previous references. The human pangenome … will allow researchers and clinicians to find new genomic variants, accelerate clinical research and deepen our … human genomes from diverse populations to better represent genomic landscape of diverse human populations. The …