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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
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Genomics Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric …
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 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.
… assessment of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain … and Health Services Research Return of secondary genomic findings: Experiences of sickle cell disease research … Center, South Exhibit Hall 3:00 p.m. — 4:45 p.m. Genetic, Genomic and Epigenomic Annotations, Databases and Resources …
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 …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… study these microbes is to take skin samples and perform genomic analyses to identify which microorganisms make up the … than a human. But in any given skin sample, it’s as if genomic pieces of each microbe are thrown in with hundreds of …
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 …
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.
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 …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome … genome sequence for every person can lead to inequities in genomic analyses,” said Adam Phillippy, Ph.D., senior …