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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.
… and investigate the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To address … them to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's …
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 … of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … basic questions: Is there a true relationship between a gene and disease? Does the genetic variant in a gene cause or …
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 … focus on several key areas, such as study design, gene- and variant-level implication, databases and implications for diagnosis. Gene-level implication refers to finding evidence that an …
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 …
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 … previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to … ​ … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … 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
… genome differ among those people. Some of these genetic variants are common, such as the variants for blood types (A, … methods to integrate many data sets related to gene and variant function, to predict which variants (or … mega-analysis for functional assessment of multi-enhancer gene regulation R01 HG008146 Yunlong Liu, Todd Skaar Indiana …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… information about clinically relevant genes and genomic variants for use in precision medicine. The National Human … availability of information about which genes and genomic variants are relevant to human disease. NHGRI established the … identify which genes are associated with disease and which variants in those genes are disease-causing. Then, they work …
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 … role might be. "Before we can understand how a variant or gene functionally contributes to a disease - and then develop … modifications called epigenomic marks, which affect gene regulation. They will develop statistical methods to …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations - …
Educational Resources
Gene regulation is the process of turning genes on and off.
… Gene Regulation … Gene regulation is the process of turning genes on and off. … Gene Expression, Genes, DNA, Transcription Factors … Gene regulation is the process used to control the timing, …