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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Beth Tuck is the chief of the Education and Community Involvement Branch at NHGRI.
… finance, and she served as a key liaison and spokesperson for Genspace. She managed Genspace through the COVID-19 … is returning to NHGRI, where her previous role was as a genomics education specialist. In this role, she worked on … engagement. Her achievements included designing curricular resources, engaging students and teachers in hands-on …
Fact Sheet
Sickle cell disease resources for patients
… your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … . These educational materials are for informational purposes only. They are meant to promote … Cleveland Clinic … CDC Mental Health Tools and Resources Centers for Disease Control and Prevention (CDC) …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Keynote Session: What are the opportunities and challenges for ML in genomics research? Moderator: Shannon McWeeney, Ph.D. , … View on YouTube … … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and … ClinGen is providing much needed clarity for the clinical genomics community regarding which gene-disease pairs have … … Clinical utility … About NHGRI and NIH … Additional Resources … Genomics experts dispute nine genes linked to …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… Search for specific publications by title, author, category and/or … the list of categories and their definitions . … Related Resources … The NHGRI Genomic Medicine Working Group (GMWG) … by the NHGRI Genomic Medicine Working Group (GMWG). … Genomics and Medicine …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… about clinically relevant genes and genomic variants for use in precision medicine. The National Human Genome … from more than 40 countries, and its impact so far on genomics research and medicine.” To date, the ClinGen … polygenic risk scores. Researchers have used these ClinGen resources to improve the effectiveness, transparency and …
News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… by organizing a nationwide network of educational events for students, teachers and health professionals. … Celebrated … to educate people about important scientific advances in genomics and how those advances may impact their lives. "Our … these collaborations, NHGRI is providing a variety of resources so these organizations can start their own DNA Day …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
… our online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician … by topic and format, including the ability to find resources that qualify for continuing education credits. … …
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… featured overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community, examples of common use … User's Guide to the Roadmap Epigenomics and ENCODE Data Resources … Joint workshop featuring overviews of Roadmap …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… ClinGen investigators are developing standard approaches for sharing genomic and phenotypic data provided by … ClinGen will disseminate the collective knowledge and resources for unrestricted use in the community and for use … Embrace diversity in all aspects from diversity of the genomics workforce to the diversity of the patients and …