Search Results
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… LDACC work with AnVIL ? The LDACC will deposit data from gene expression and genotyping analyses in the AnVIL on a timely … Coordinating Center for the Developmental Genotype-Tissue Expression Project: Jyoti Dayal, M.S. National Human Genome … Procurement Center (BPC) Supporting the Developmental Gene Expression (dGTEx) Project: John Ilekis, Ph.D. National …
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. … 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 …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… An oncogene is a mutated gene that contributes to the development of a cancer. … Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated gene that has the potential to cause cancer. Before an … An oncogene is a mutated gene that contributes to the development of a cancer. …
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. … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. Genetic maps have been used … as markers. DNA markers don't, by themselves, identify the gene responsible for the disease or trait; but they can tell …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex linked is a trait in which a gene is located on a sex chromosome. …
Educational Resources
Chromatin is a substance within a chromosome consisting of DNA and protein.
… Chromosome, Histones, Gene Expression, DNA …
Educational Resources
Recessive Traits and Alleles is a quality found in the relationship between two versions of a gene.
… found in the relationship between two versions of a gene. … Gene, Genotype, Inherited, Mutation, Phenotype, Allele, … an observed trait and the two inherited versions of a gene related to that trait. Individuals inherit two versions of each gene, known as alleles, from each parent. In the case of a …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… used to locate the position of a disease-associated gene along the chromosome. … Candidate, Gene, Chromosome, Contig, Deoxyribonucleic Acid (DNA), Gene, Linkage … used to locate the position of a disease-associated gene on a chromosome. Such a strategy can succeed even when …
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.
Educational Resources
An allele is one of two or more versions of a gene.
… An allele is one of two or more versions of a gene. … Allele, Gene, Homozygous, Autosomal, Mutation, Inherit, Heterozygous, … An allele is one of two or more versions of a gene. …