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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
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 …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . … Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … diagnostic genetic test Broad clinical deployment of rapid genomics-based precision care in infants is eminently … annually to be highlighted as the most significant. … Genomics and Medicine …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… number/pager/email that any UAB physician can use to ask for assistance in ordering genetic testing. The initial … Program) MD and GC will provide information about local resources available for clinical confirmation … we launched a “pooled” e-consult to field genetics and genomics questions at MGH. Specialists from 3 different …
Event
On January 25, 2023, the National Human Genome Research Institute will hold a roundtable on social and behavioral genomics.
… Challenges Moderator: Prabarna Ganguly, Nucleus Genomics Tracy M. King, Eunice Kennedy Shriver National … Audience Q&A 4:00 - 4:05 — Closing Remarks … Additional Resources Statement: American Society of Human Genetics … January 24, 2023 Avoiding Ableist Language: Suggestions for Autism Researchers by Kristen Bottema-Beutel, Steven K. …
Event
A 10-part seminar series in 2021 that focuses on the “Bold Predictions for Human Genomics by 2030” that are described in NHGRI’s “Strategic Vision for Improving Human Health at the Forefront of Genomics.”
… analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as … p.m. to 4:30 p.m. ET Bold Prediction #4: Research in human genomics will have moved beyond population descriptors based … backgrounds will benefit equitably from advances in human genomics. Speakers: Robert Winn, M.D. Virginia Commonwealth …
Event
Lectures series that increases understanding of genomics in the scholarly community and presents contemporary research of immediate interest to NHGRI staff.
… Additional Resources … The NHGRI History of Molecular Biology and Genomics Lecture Series emerged out of the Capturing the History of Genomics workshop with the explicit purpose of bringing in …
Educational Resources
Step-by-step instructions and printable folding paper included in the downloadable document.
… paper included in the downloadable document. … Educational Resources …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … with the National Human Genome Research Institute. … For Patients and Families …
Videos
GenomeTV is the National Human Genome Research Institute's collection of videos, including live event coverage, scientific lectures, and documentaries.
… … Missed a live webcast? NHGRI uses Vimeo as the platform for live events. Visit our Vimeo channel (for webcasts after September 2021). Please note that webcasts are unedited. For our edited video, visit our YouTube channel - GenomeTV . …