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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
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
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.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …  Predicting and Characterizing Functional Consequences of Genome Variation, Including Beyond Single Variant/Gene Panel: … (e.g.,, ideas that build on the ENCODE Project and the Genome Sequencing Programs) and long-term projects that may …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled … be used longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable … for Genomic Health … On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
… Green  … Agenda … Workshop Materials … The National Human Genome Research Institute (NHGRI) is in the middle of a new …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… The National Human Genome Research Institute (NHGRI) sponsored the meeting …
Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy … Neonatal Health … On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy … Health. … On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy …
Events
NHGRI sponsored the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting in Bethesda, Md, on August 30, 2016.
… Additional Resources … The National Human Genome Research Institute (NHGRI) sponsored the IGNITE and …