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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.
… technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … who design studies need to think about the underlying genetic basis of a disease. "Will it be driven by common or … M.D., Ph.D., director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University in Baltimore, …
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.
… Genome (ClinGen) Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA effort  to provide genetic test developers access to consistent, … challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To address … to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's … approach to studying the phenotypic consequence of human genetic variation. Image Credit: Darryl Leja, NHGRI.  "We're …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… approaches for searching among millions of genomic variants to find those that make a difference in disease … of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last … said Lisa Brooks, Ph.D., program director of the NHGRI Genetic Variation Program. "We are looking for approaches …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
… significance (abbreviated VUS). In many cases, these variants are so rare in the population that little …
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 … interpretations among researchers, clinicians and genetic testing laboratories. "Large-scale sequencing of … and applying those standards to the evaluation of genetic information as it might currently apply in the …
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
… in the genome differ among those people. Some of these genetic variants are common, such as the variants for blood types (A, … of these variants are not necessarily known, but the genetic code provides a good starting point to predict how …
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 discovery of the genes and genetic variants that underlie human Mendelian disorders is … involve similar genes, pathways, and phenotypes. While the genetic basis of more than 5,000 Mendelian disorders has been …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …