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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
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… associate professor in pediatrics and the interim director for precision medicine at the Uniformed Services University … NHGRI to direct its Reverse Phenotyping Core in the Center for Precision Health Research. He oversees the daily … Turner C , Biesecker LG, Katz AE. Genotype First: Clinical Genomics Research Through a Reverse Phenotyping Approach . Am …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… laboratory from Howard University and joined the Center for Research on Genomics and Global Health (CRGGH), National … Shriner D, Adeyemo A, Ramos E, Chen G, et al. Mapping of disease-association variants in admixed population. Genome … C. A novel approach for the simultaneous Analysis of common and rare variants in complex traits. Bioinform Biol …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and … of the genes to be definitively associated with the most common form of the disease. The work was funded by the National Human Genome …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, … functional elements in the fruit fly and roundworm genomes for use by the research community. Such elements include … for years to come. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Jie Zhou is a Data manager and SAS programmer at the Center for Research on Genomics and Global Health (CRGGH). She is a … Shriner D, Adeyemo A, Rotimi CN. Simultaneous Analysis of Common and Rare Variants in Complex Traits: Application to … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1;5(3):75-80. …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… in the world. An important limitation to the field of genomics has been the limited degree to which this variation … in a key data base, ClinVar , as “likely pathogenic” are common, providing evidence against their clinical … the field. Geographical regions and populations of origin for H3Africa whole genome sequence (WGS) data. The size of …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… doctors and tests later, there was still no explanation for his symptoms, explained Dan Kastner, M.D., Ph.D., … of Intramural Research and head of the Inflammatory Disease Section at NHGRI. From L to R: Dan Kastner, M.D., … Dr. Kastner. The team thought that one solution might be a common drug known as a tumor necrosis factor (TNF) inhibitor, …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at … condition. This means that many people with ADPKD live for decades without developing symptoms of renal functional …
Health
GenomeEd is a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare professionals and educators.
… GenomeEd is a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare … including the ability to find resources that qualify for continuing education credits. GenomeEd is supported by …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Introduction of this application system sets the stage for the network to advance its core mission: to diagnose … been described or are unrecognized forms of more common diseases. … The new system streamlines the application … 1-U01HG007703-01. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …