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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
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… the Stage Visions of the Future: What will the field of genomics look like in 5-10 years? How will it get there? 9:00 … Part II: Scientific Issues 11:00 - 11:05 a.m. Deliverables for Part II NHGRI Staff Meeting Advisors 11:05 - 11:25 … Graveley How should we be doing this into the future? What resources, new technologies and computational capabilities do …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
… Heidi Rehm, Marc Williams 10:30 - 11:00 a.m. - Goals for the Workshop and Results Les Biesecker, Anastasia Wise … - 11:15 a.m. - Break Theme 1: Create systems to integrate genomics into everyday clinical and public health practice … p.m. - Discussion Theme 4 Bob Wildin Theme 5: Ensure that genomics has maximum utility for all members of the public …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Investigator Institution Title Grant Number Mendelian Genomics Coordinating Center Susanne May University of Washington University of Washington (UW) Mendelian Genomics Data Coordinating Center U24HG011746 Mendelian … The centers will also aim to solve “unsolved” cases for which a candidate gene was not identified by solely using …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. … of Mendelian conditions and to increase the solve rate for rare disease. The National Human Genome Research … understand the major challenges, gaps and opportunities for developing solutions to this complex issue. Executive …