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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.
… study was performed by researchers at the National Human Genome Research Institute (NHGRI), part of the National … singing dogs and the Highland Wild Dogs have very similar genome sequences, much closer to each other than to any other … believe that because the Highland Wild Dogs contain genome sequences that were lost in the captive New Guinea …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study …
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.
… South Exhibit Hall 3:00 p.m. — 4:45 p.m Complex Traits Sequencing-based genome-wide association study of triglycerides in East … if recent gene populations detected using a complete human genome sequence Board No. PB3105 Daniela Soto Convention …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… M.D., Ph.D., scientific director of the National Human Genome Research Institute's (NHGRI) Division of Intramural … to his lab at NHGRI. Dr. Kastner's team wanted to use genome sequencing to try to pinpoint if Rohith's condition was …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of … advancing our understanding of the complexity of our own genome and, in turn, improve human health." This year, 416 … great potential to provide keen insights about the human genome, as well as lay the groundwork for translational …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… residency programs at the institute. … The National Human Genome Research Institute (NHGRI), part of the National … fields have undergone enormous changes. Decoding the human genome in 2003 became a defining moment for the field and …
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.
… R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked Biobanks … Platform … Predicting Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in … of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: Findings from a Twin Case P383 …
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
… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … 2023, 2:15 - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic … . The study was led by researchers at the National Human Genome Research Institute (NHGRI), part of NIH, in … et al (2023), NEJM .   The researchers used genome sequencing to study four individuals with disabling …
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.
… The results appear in a new catalog, the Skin Microbial Genome Collection (SMGC), published today in Nature Microbiology . Investigators at the National Human Genome Research Institute (NHGRI), European Bioinformatics … skin samples had been sequenced using shotgun metagenomic sequencing, a technique that randomly samples many short …