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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
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… calculate polygenic risk scores by comparing the genomic data of people with and without a particular disease. … populations. The new consortium, called PRIMED , will pool genomic information from existing and new datasets to develop … populations. Researchers have used available large-scale genomic datasets to develop the ability to calculate …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… regardless of genetic ancestry. … To prevent an emerging genomic technology from contributing to health disparities, a … recalibrated these genetic tests using ancestrally diverse genomic data. As reported in Nature Medicine , the optimized … of their genetic ancestry,” said Dr. Lennon. “The diversity of the All of Us dataset was critical for our …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… of genome sequences captures significantly more human diversity. … The new pangenome reference is a collection … genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Genomics Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource … focus of the diagnostic test. Data sharing The ClinVar database aggregates information about genomic variants and …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Human Genome Research Institute (NHGRI) sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The … research directions in development and implementation of genomic risk prediction Summaries Executive Summary Meeting …
Event
On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… Pat Deverka Structure, Goals and Products of NHGRI Genomic Medicine Meetings Teri Manolio 11:15 a.m. Session 1: … Rex Chisholm Renee Rider Keynote: The State of Genomic Learning Healthcare Systems (25 min) Peter Hulick … From GM XIII (15 min) Ken Wiley Integrating Genomic Results Into EHRs (15 min) Travis Osterman …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… Human Genome Research Institute (NHGRI) sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in … MD. This meeting discussed the current state of population genomic screening in the U.S., as well as barriers and …