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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
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.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome. If transcription factors are thought of as the keys … used new genomic techniques called single-cell RNA sequencing and single-cell assay for transposase-accessible …
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.
… Prabarna Ganguly, Ph.D. … Study used a “search the genome” approach to reveal how mutations in a gene called … to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new inflammatory … cells carried the gene in its mutated form. Using DNA-sequencing methodologies, the researchers found that the …
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.
… the science of precision health. … The National Human Genome Research Institute (NHGRI) has announced plans to … “Progress in genomics since the completion of the Human Genome Project has exceeded even optimistic expectations in … precision health research program … The National Human Genome Research Institute (NHGRI) has announced plans to …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core … of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which together allowed analyses to be … more than 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data …
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.
… with family members. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National …
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.
… which looks at the role that genes play in health by sequencing most of a person's genes and searching for … variant, they all chose to have their thyroids removed. … Genome sequencing — the ability to sequence an individual's … MRI, radiology and other medical tests. In the case of genome sequencing, examples of secondary findings can include …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… the Intramural Research Program of the National Human Genome Research Institute (NHGRI), part of the National … attitude. Around the same time, the results of the Human Genome Project were coming out. An international effort spanning 13 years, the Human Genome Project was a landmark study that generated the first …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… have discovered over 100 new regions of the human genome, also known as genomic loci , that appear to … Health Informatics Section within the National Human Genome Research Institute’s (NHGRI) Intramural Research … the researchers combined four large datasets from genome-wide association studies of blood pressure and …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… expressed overall optimism about participating in human genome editing clinical trials, but were concerned about … community voices to the design and recruitment of upcoming genome editing studies will be essential for the success of … and Behavioral Research Branch of NIH's National Human Genome Research Institute (NHGRI). "This study couldn't come …
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.
… study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … trying to invade our bodies. Microbes affect the human genome in many ways. For example, they can influence some of …