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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
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 …
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.
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
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… of DNA Elements (ENCODE) project, sequencing the genomic regions of dozens of vertebrate species and providing … access to the latest, most efficient, and cost-effective genomic technologies. We give them a spark to energize their … access to the latest, most efficient, and cost-effective genomic technologies. We give them a spark to energize their …
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 …
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
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… in genetic epidemiology and efforts to enhance the diversity of the human genetics field. … Charles Rotimi, … Research on Genomics and Global Health, a group that uses genomic tools to understand metabolic disorders such as … obesity, and hypertension. His group is exploring how genomic data from admixed groups and individuals of African …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… sequences from six primate species reveal species diversity and insights into evolution. …  A team of …