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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
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a free, online collection of materials for use in the classroom and for self-directed learning in … resource has been expanded to include a new collection of resources for physicians. "This resource seeks to bridge the …
News Release
An online Informed Consent Resource created in 2009 by NHGRI has been updated to keep pace with advances in genomics over the past several years
… sequencing technologies become increasingly affordable, genomics research is playing an ever-larger role across … advance understanding about how to harness the power of genomics to improve health. Those participants would join … policy landscape have contributed to new considerations for consent in genomic research," said Kate Saylor, health …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online collection of materials for self-directed learning in genetics and genomics, now … clinical advisor, Genomic Healthcare Branch. "The new resources on G2C2 provides pharmacists one convenient place …
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 …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… in DNA amplicons. bam2mpg A Bayesian genotype caller for NextGen sequencing data. BuddySuite A collection of four … massively parallel sequencing experiments. … Available Resources … Data Tools and Resources … Our researchers develop freely available software …
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, …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… The Genomics, Environmental Factors and the Social Determinants … community-based cohort and novel genomic science resource for defining the biological significance of ancestry-related … of Health National Human Genome Research Institute (NHGRI) Genomics of Metabolic, Cardiovascular, and Inflammatory …
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 …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… like mine, that don't have the infrastructure or resources for genetic screening." This summer, Ms. Iriele focused on … diagnostics in countries that are limited in their resources," said Max Muenke, M.D., atlas co-creator and chief …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry will be the focus of an … School of Medicine. The first lecture, Genetics and Genomics of Craniosynostosis Syndromes , is set for Fri., Mar. 7, 2014, from 8-9 a.m. … "Patients suffering …