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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
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Genomicists and clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from … also asked him if he would want to know if they found any genomic variants that could affect him or his family. Bryant … study, as the researchers had told him that these types of genomic results take time. In 2018, he received a voicemail …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… over 100 new regions of the human genome, also known as genomic loci , that appear to influence a person’s blood … Results of the study also point to several specific genomic loci that may be relevant to iron metabolism and a … published in Nature Genetics , is one of the largest such genomic studies of blood pressure to date, including data …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… finished his Ph.D. During his Ph.D., Dr. Hanchard studied genomic variation and complex traits. He also completed a … of individuals across Africa, we found millions of novel genomic variants that had not yet been reported,” he says. Previously, only a small portion of the genomic diversity in African population was studied. Dr. …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread … National Institutes of Health, determined that specific genomic variants that cause a disease called familial … that because of this potential advantage, FMF-causing genomic variants have been positively selected for in …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
… of DNA Elements (ENCODE) project, sequencing the genomic regions of dozens of vertebrate species and providing … access to the latest, most efficient, and cost-effective genomic technologies. We give them a spark to energize their … comparative genomics research. He has received numerous awards, including the NIH Director’s Award, three NHGRI GREAT …
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.
… work within NIH has been recognized with NIH Director’s awards (2018 and 2019), including the NIH Director’s award …
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.
… Diana Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and … 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
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.
… Research Network. Previous research established that genomic variants in APOL1 increase the risk of developing … Americans. However, not much is known about how these genomic variants affect people from West African countries, … Americans derive genetic ancestry . Studying how these genomic variants contribute to chronic kidney disease in West …