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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… of undergraduate level courses in biochemistry and genetics. Counseling experience, either paid or voluntary. … coursework, student supervision, coordination of clinical rotations and Accreditation Council for Genetic … as medical director of the program. Students benefit from clinical supervisors located at Johns Hopkins, the National …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… and the field of genomics. … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, … physician and a scientist. Although he has stepped down as Clinical Director, he will remain at NHGRI to focus on his … He then came to NIH for successive fellowships in clinical genetics and clinical biochemical genetics within the NIH's …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… … Genomic medicine has the capacity to revolutionize clinical practice. The mapping of the human genome has … Tests and Services (HHS Secretary's Advisory Committee on Genetics, Health, and Society) An Evidence Framework for … Sciences, Engineering, and Medicine) Another issue where genetics intersects with health insurance is genetic …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: … Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical culture that …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… contacted GARD, as have people who are taking part in a clinical study. Community leaders looking to help people find …
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.
… Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. … … … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring together … hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, …