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News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … of high-quality tissue samples and information on gene expression — important resources that scientists needed … It also established a resource for researchers to explore gene expression in many different tissues to understand the …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study found that having more than two copies of the TPSAB1 gene was associated with symptoms related to the … NHGRI researchers identified a person with a genomic variant associated with a known metabolic disorder. Further … researchers and their collaborators found that a genomic variant was associated with immune dysfunction at the …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … The human genome is made … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is a collection of all the gene readouts present in a cell. There are various kinds of …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A genome-wide association study (abbreviated GWAS) …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de Villena, Ph.D., at …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… practice. One factor that limits the clinical use of variant information is the lack of openly accessible … NCBI’s publicly available ClinVar database and sharing gene-level interpretations through GenCC. This group works … data sharing. Additionally, this group is focused on gene and variant curation through expert panels within the …
Educational Resources
Transcription is the process of making an RNA copy of a gene sequence.
… … Transcription is the process of making an RNA copy of a gene sequence. … Cell, Cytoplasm, Deoxyribonucleic Acid (DNA), Gene, Gene Expression, Messenger RNA (mRNA), Nuclear Membrane, …
Educational Resources
Codominance is a relationship between two versions of a gene.
… … Codominance is a relationship between two versions of a gene. … Genes, Alleles, Recessive, Dominant, Family Health … of inheritance in which two versions (alleles) of the same gene are expressed separately to yield different traits in an … … Codominance is a relationship between two versions of a gene. … Educational Resources …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …