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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
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 define the …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … GNE Myopathy is a rare ( … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… … Dr. Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders …
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 … Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical condition that …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… 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.  … History Study of Children with Mitochondrial Disease NIH Clinical Center  Household Viral Exposure in Children with …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of … significant. …  Genetic diagnosis of hearing loss informs clinical management but is less likely in underrepresented … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences … of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …  Scientists Sequence Last Piece of The Human Genome: The Y Chromosome Science: ‘Most troublesome …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) Project is a worldwide effort to understand how the human genome functions. With the completion of its latest phase, … As a new feature, ENCODE 3 researchers created a resource detailing different kinds of DNA regions and their …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. …
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 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 Intramural Research Program, Basic Research, Clinical Research, Social Behavioral Science Research, …