Search Results

1 - 10 of 319
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … person's genome contains between three and four million genomic variants, which are specific changes in DNA sequence. …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in … research and to develop an expert-curated collection of genomic variant pathogenicity information. ClinGen also … Institute of Child Health and Human Development. ClinGen genomic variant interpretations are available to researchers …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… genome differ among those people. Some of these genetic variants are common, such as the variants for blood types (A, B, AB, or O), while many of the variants are rare, seen in only a few people. Most of these …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and … African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity, a … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more … Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make … for patients. "Much of what we hope to accomplish in genomic medicine will be fundamentally flawed if we don't …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… computational approaches for searching among millions of genomic variants to find those that make a difference in disease … people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The … genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that … Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The centers define the …
Archive
… 2013 News Release Researchers Identify Genomic Variant Associated With Sun Sensitivity Freckles … …
Archive
… 2013 Release New Nihfunded Resource Focuses On Use Of Genomic Variants In Medical Care … Archive …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically …