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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
Event
The purpose of this semi-annual lecture series is to bring distinguished researchers whose work sits at the interaction of genomics and the social and behavioral sciences to speak to the NIH community.
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Study shows genomic information can unknowingly influence medical … study? Susan Persky: Researchers are increasingly using genomic data in the clinic for diagnosing rare health … generally don’t have a lot of experience with genetic and genomic information. When there is uncertainty in a …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory … in the body and play an important role in healing wounds. Genomic variation in the STAT4 gene causes disorganized … pansclerotic morphea and found that all four have genomic variants in the STAT4 gene. The STAT4 gene encodes a …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as … admixture in the population to uncover true links between genomic variants and traits.” To look at European genetic … association studies and generated a reference panel of genomic data that included 19,000 individuals of European …
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… special guest speakers on research relevant to the use of genomic data and large-scale electronic health record … special guest speakers on research relevant to the use of genomic data and large-scale electronic health record … special guest speakers on research relevant to the use of genomic data and large-scale electronic health record …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… will allow researchers and clinicians to find new genomic variants, accelerate clinical research and deepen our … human genomes from diverse populations to better represent genomic landscape of diverse human populations. The … professor of genetics and director of the Yale Center for Genomic Health at Yale University Erich Jarvis, Ph.D., …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… experimental techniques to look at thousands of different genomic variants to understand how each of those variants and …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… New study uses postmortem brain tissues to understand genomic differences in individuals with attention deficit … the findings, published in Molecular Psychiatry show how genomic differences might contribute to symptoms. To date, … function and give rise to symptoms. The researchers used a genomic technique called RNA sequencing to probe how specific …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient … the National Human Genome Research Institute's Division of Genomic Medicine. Five new clinical sites will join the … and the University of Oregon. A complete list of funded awards can be found at …