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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
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 …
For Teachers
The Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our lives.
… diverse populations to engage communities around genomic science, to inform and share perspectives about genomic research, and to impact the focus of research. … …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… Native Health Board (ANHB) — co-sponsored a workshop on genomic research with the National Human Genome Research … was to cultivate trust and build relationships between the genomic research community and Alaska Native people, a … As highlighted in the 2020 strategic vision by NHGRI , diversity and inclusion in genomics research is an ongoing …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… the ability to: Explain the importance of using genomic approaches in modern biomedical research. Interpret … presented during the lectures. Assess, select, and apply genomic and bioinformatic techniques that can help advance …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… explain how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the … type of cancer will progress , find disease-causing genomic variants and identify genetic disorders by examining … disorders and their severity, and to understand how genomic information influences decision-making. View video …