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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
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… NIH findings may help researchers understand how genomic variation can affect behavioral differences in … owners around the world. The researchers found that the genomic differences among dog breeds are related to the … in the human genome can contribute to behavioral diversity among humans. Further research can help us draw a …
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
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… worked on developing a method that could look at multiple genomic markers simultaneously for a human trait and on … we can start to try and tease out, in a practical way, genomic variants that are instrumental in causing common …
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
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.
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… understanding of genome function and inform the use of genomic information in medical care.” After nearly two …
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
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… aims to capitalize on growing availability of large-scale genomic and health record data worldwide to advance the … evaluate next-generation healthcare that uses cutting-edge genomic and informatic tools to improve the diagnosis, … Metabolic Genetics Branch, who has extensive experience in genomic medicine research. Also joining the program will be …
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, …