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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
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… into question current policies on receiving secondary genomic findings. … A study published today by researchers at … individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare … , examines people's attitudes about receiving secondary genomic findings related to treatable or preventable …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable … from all breeds, particularly from Asia and Africa. The database is available online , and researchers can input …
News Release
Washington University in St. Louis awarded an honorary Doctor of Science to Eric D. Green, M.D., Ph.D., for his contributions to the field of genomics.
… the generation and analyses of sequences from targeted genomic regions in evolutionarily diverse species, and … for genomics research, entitled Charting a course for genomic medicine from base pairs to bedside . Beyond … , the NIH Big Data to Knowledge (BD2K) program, the NIH Genomic Data Sharing Policy and the U.S. Precision Medicine …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… the National Cancer Institute. I was in the Laboratory of Genomic Diversity, where my group developed new technologies and … where they needed someone knowledgeable about developing genomic technologies, and I had that expertise. … Soo: Were …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… similarities, we were instead taking advantage of shared genomic similarities that could help us discover a completely … Three middle-aged males had rare and potentially damaging genomic variants in the UBA1 gene, but each of the three … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical signs and symptoms. The … patient came to our clinic, we found their disease-causing genomic variant and looked for other patients with the same … dysplasia, a rare disorder that is caused by a genomic variant in a specific receptor and characterized by …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; … spectrum of symptoms of the disorders and the associated genomic variants. “Genomics has the potential to change … this approach helped discover new relationships between genomic variants and specific clinical traits. For example, …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… work. “We are trying to lay the groundwork that having diversity in genomics is useful as we push medicine and … 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. …
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 …