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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
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 …
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 … where they needed someone knowledgeable about developing genomic technologies, and I had that expertise. … Soo: Were … development of a broad swath of different and impactful genomic technologies. We also added a technology development …
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 …
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.
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
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… and zebrafish are visually quite different, but at a genomic level, they share more than 70% of their genes. This genomic similarity offers the potential for researchers to … would like to unravel.” Using a combination of genomic techniques and computational-based machine learning, …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
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, …
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 …