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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
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… blueprints for life. … Did you know that just knowing the genome sequence of an organism only reveals part of the story … important to determine how that organism interprets its genome and uses that information to build and operate itself … through the placenta . The rest of the genome includes regulatory elements , including areas that influence genes …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases occur … genetic variants, but most of the alterations are found in regions of the DNA that do not carry genes. Scientists have … V, O'Shea JJ. Super-enhancers delineate disease-associated regulatory nodes in T cells . Nature . Online February 16, …
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 conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with … researchers relied on a new global database of the whole-genome sequences of 722 dogs across 44 domestic breeds, along …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… researchers and collaborators have discovered over 100 new regions of the human genome, also known as genomic loci , that appear to … Health Informatics Section within the National Human Genome Research Institute’s (NHGRI) Intramural Research …
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 … 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. As usual, … the variants’ relationships to relevant genes and their regulatory elements, cell types, and biological pathways. The …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… chromosomes in the cell - to better understand how the genome works. A better understanding of chromatin will yield … activity in a cell by controlling access to the genes and regulatory proteins that make the genome work. Chemical tags … identify regulatory information in the non-protein coding regions of the genome. This information - found in sequences …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… research in the rare disease space with a focus on regulatory medicine and clinical trials in Mendelian … publication or (2) an interview with a leader in regulatory medicine and clinical trials. The seminars aim to … are not limited to): study design, preclinical research, regulatory affairs, data management, funding/budgets, working …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… between populations from different geographical regions. … Ancestry, Genome, Family Health History, Genotype, DNA Sequence … … between populations from different geographical regions of the world. Ancestry-informative markers can be …
Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
Educational Resources
A centromere is a constricted region of a chromosome that separates it into a short arm (p) and a long arm (q).