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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 …
Archive
… NIH researchers identify gene variant in Proteus syndrome … Archive …
Archive
Gene Variants May Increase Susceptibility to Type 2 Diabetes … …
Archive
… Rare lethal disorder traced to variant of the PIGA gene on the X chromosome … Archive …
Archive
Variants in Three Genes Account for Most Dog Coat Differences …
Archive
… Scientists Identify Gene Variant Involved in Isolated Cleft Lip … Archive …
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 …
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 …
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 …