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News Release

Genomics' daunting challenge: Identifying variants that matter

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

First FDA-Recognized Public Genetic Variant Database: ClinGen

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 pilot project will match researchers to genes, gene variants of interest

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

Grants to help identify variants in the genome's regulatory regions that affect disease risk

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

Researchers discover underlying genetics, marker for stroke, cardiovascular disease

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

Variant of Uncertain Significance (VUS)

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

ClinGen setting standards for when genes and their variants matter in disease

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

Non-Coding Variants Program

The Non-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

Centers for Mendelian Genomics

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

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, …