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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 April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… up to the 30th anniversary of the launch of the Human Genome Project in October 2020. The first four such oral … of strategic planning that dates back to the Human Genome Project. These efforts have proven extremely valuable … . NHGRI plans to release the draft 2020 strategic plan on genome.gov on April 15. At that time, we will be engaging …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… Office of Intramural Research (OIR), the National Human Genome Research Institute (NHGRI), the Deputy Director of … primary and secondary. Both cross-sectional and family studies will be considered. Study design for family studies should target the sampling to optimize cost and data …
The Genomics Landscape
In the November 5, 2020 edition of The Genomics Landscape, Dr. Eric Green focuses on the 2020 Strategic Vision.
… the 30th anniversary of the launch of the Human Genome Project (HGP), which was featured in last month’s The … with the other funders associated with the Human Genome Project. Following completion of the Project, NHGRI … our imagination and pique our curiosity through audacious studies that will provide new insights into areas such as …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… suspects, and victims of crimes and disasters. … Your genome is the operating manual containing all the … And it’s unique to you. The more you know about your genome and how it works, the more you'll understand your own … in the highly structured and tightly packed nature of the genome. … Genomes are made of DNA, an extremely large …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH … publishing two papers about their clinical and genomic studies of RUNX1-FPD. "Our study represents the largest … over 100 participants with RUNX1 variants, analyzing their genome, blood, bone marrow and other systems. The …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… and terriers are plucky supermodels. National Human Genome Research Institute (NHGRI) researchers reached this … (PNAS). … Understanding Athletic Performance In other studies, largely in humans, researchers have identified about … researchers relied on a new global database of the whole-genome sequences of 722 dogs across 44 domestic breeds, along …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… and treatment. … WHAT: Investigators with The Cancer Genome Atlas (TCGA) Research Network identified new molecular … by the National Cancer Institute and the National Human Genome Research Institute, both parts of the National … information about NHGRI can be found at http://www.genome.gov . NCI leads the National Cancer Program and the …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… Phenotypes (dbGaP), model organism databases (e.g., Mouse Genome Informatics and Xenbase ), and cloud repositories … by allowing genomic data to be combined across studies, and accelerates the pace of discovery by increasing … different languages, the document is now accessible to a wide range of patients.  As the lines between patient care …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… T2D. Over 90% of these fall in non-coding regions of the genome, making it difficult to determine what gene has its … not attainable from the FUSION subjects. The aim of these studies is to compile the knowledge gained from studying … colleagues are employing this system in CRISPRi -genome wide gene inhibition experiments to identify critical genes …