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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- 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
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Researchers at the National Human Genome Research Institute have developed a number of software … Complementary Pairs Stability Selection for Genome-Wide Association Studies (ComPaSS-GWAS) An ad-hoc … predicting microRNA target site variants (miR-TSVs) from clinical genomic data sets. Tiled Regression Analysis A …
Professional Development Programs
The Short Course in Genomics offers educators a chance to hear lectures and receive teaching resources from leading researchers, clinicians and staff.
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code  exhibition is currently … The human genome reference sequence is thus an essential resource for investigators involved in human genomics … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … for rare conditions. "Newly developed methods for genome sequencing now provide us amazingly powerful …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… advance the application of genomics to medical science and clinical care. … Many DGM programs and projects have working … in Genomic Medicine and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) … Genomic Medicine XVI: Host Genomics and … 2012 RFA-HG-12-016 Clinically Relevant Genetic Variants Resource: A Unified Approach for Identifying Genetic Variants …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… in January 2021. She is a Project Scientist for the Clinical Genome Resource (ClinGen), a consortium of more than 1,400 individuals from 35 …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… genomics field have slowly started to find applications in clinical care. The field of "genomic medicine" could … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of appropriate interventions or clinical advice. The sites will work together to develop new …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … In 2012, she provided founding leadership for the Clinical Genome (ClinGen) Resource, an authoritative central resource to …