Search Results
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… phenotyping of ~100,000 coding variants across Mendelian disease genes HG011989 Gary Hon William Kraus Nikhil Munshi … Duke University High-throughput functional annotation of gene regulatory elements and variants critical to complex … resource of functional elements, TF footprints and gene regulatory interactions HG011986 Ansuman Satpathy …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… a genetic variation (allele) associated with a specific disease or trait. A carrier has inherited a normal and a variant allele for a disease- or trait-associated gene, one from each parent. Most typically, carrier screening … other parent is a carrier of a harmful variant in the same gene. …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… interview patients and make recommendations. Centers for Disease Control and Prevention (CDC) Family history case … of genetic and environmental factors influence health and disease across the lifespan. Courses in which this content …
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a … Family Health History, Genealogy, Genetic Disease … probability that two loci (e.g., a disease-associated gene and another sequence of interest, such as a variant or …
File
… Using ENCODE Data to Interpret Disease-associated Genetic Variation.pdf …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… association, and function in human health and disease. If you are in the Boston area, we welcome you to … However, genome sequencing failed to detect some disease conditions that were detected by traditional … – for various conditions, including obesity, heart disease, type 2 diabetes, and kidney disease. Researchers …