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- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards …
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 eMERGE & CSER: The Convergence of Genomics and Medicine at the … for the implementation of genomic sequence data into clinical care, as well as research that combines …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… and future opportunities for the National Human Genome Research Institute's (NHGRI) flagship Genome Sequencing Program (GSP) at a July 28 - 29 meeting in … the Centers for Mendelian Genomics (CMG) program; the Clinical Sequencing Exploratory Research (CSER) program; and …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… research in the field of genetic counseling and provides clinical rotations for students to learn directly about … Diseases Clinical Genomics Program  Centralized Sequencing Program Morgani Similuk, Sc.M., Ph.D. Sarah … may also be available. … Genetic counseling seeks evidence to guide practice. Because one of the major goals of …
Event
Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on January 17, 2019.
… Bethesda 1 Bethesda Metro Center Regency I/II … eMERGE & CSER: Genomics and Medicine Steering Committee Meeting … Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on January 17, 2019. … Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… … 1. Review of data We will review your de-identified sequencing data to look for possible secondary findings. All … Genomic Variant Confirmation (CRIS) for confirmation of research findings. … 4. Confirmation and genetic counseling … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for all NHGRI clinical research protocols, as well as basic science studies …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research … the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI …