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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
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 …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
… will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA … for nearly two decades. The National Human Genome Research Institute (NHGRI) will host a press conference in … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
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.
… Data Coordinating Center U24HG011746 Mendelian Genomics Research Centers Stephen Montgomery Stanford University … gene was not identified by solely using whole exome sequencing. The DCC will manage data release and disseminate … RFA-HG-20-007 : Mendelian Genomics Research Centers (U01 - Clinical Trial Optional)  RFA-HG-20-008: Mendelian Genomics …
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 …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Is the SGFS applicable to my research? Secondary findings explained, eligible protocols, … 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 …
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 …