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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
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Oncology Transfusion Medicine Translational Addiction Research Urologic Oncology … The NIH Clinical Electives … concepts in clinical genetics Learn about genomic sequencing and management of genetic disorders Participate in …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network, IGNITE I … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … an organism's genome. … Deoxyribonucleic Acid (DNA), DNA Sequencing, Genome, Human Genome Project … Shotgun sequencing …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… Cores … Adjunct Investigators … Scientist Emeriti … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Advances in genomics are reducing the cost of genome sequencing by a million-fold. … Did you know that your genome …  Resources for Educators: Career Profile: Laboratory Research Assistant or Technician  | Video Learn.Genetics - … and Whole Genome Sequencing? The Jackson Laboratory - Clinical Education Resources on Genetics and Genomics Courses …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers … addition to creating an essential resource for biomedical research, the HGP helped define NHGRI's niche: developing … of the GSP included two additional components: The Clinical Sequencing Evidence-Generating Research (CSER) . …
Educational Resources
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule.
… DNA Sequencing … DNA sequencing is a laboratory technique used to determine the … additional methods represents an active area of genomics research. … DNA sequencing is a laboratory technique used to …