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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Genomics Section  cfDNA as a Novel Biomarker for Disease Progression and Response to Treatment in … Investigation of a novel experimental mouse model of Salla disease Marya Sabir Graduate Student, NIH Undiagnosed Disease … Research Fellow, Social and Behavioral Research Branch  Risk Factors for Colonization by Candida auris, an Emerging …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be … conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) …
Event
The 2022 - 2024 Class of ISCC-PEG Scholars provided virtual presentations of the genomics education projects in which they were involved during their two years of participation in the program. Their ISCC-PEG Mentors provided introductions.
… towards Counseling on Reproductive Options for High-Risk Individuals Ava Willoughby, Ohio State University …
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.
Event
The 2020 - 2022 Class of ISCC-PEG Scholars provided virtual presentations of the genomics education projects in which they were involved during their two years of participation in the program. Their ISCC-PEG Mentors provided introductions.
… an App for Healthcare Providers Working with Rare Disease Patients Kelsey Ellis, M.S., LCGC Genetic Counselor …