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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
As a way to engage with members of the public who want to know more about particular genomics topics, NHGRI director Eric Green, M.D., Ph.D. answers questions on Twitter using the hashtag #AskDrGenome and invites a special guest from NHGRI to join him.
… weeks, Dr. Eric Green answers questions on Twitter about genomics using the hashtag #AskDrGenome . Each time, he dives into different genomics topics and invites a special guest from NHGRI to … of the public who want to know more about a particular genomics topic. Anyone can tweet a question to Dr. Green and …
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 …