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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 …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes … (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to … Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. …
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. …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Free CAT scan to detect coronary artery disease.  Finding gene changes that are important to your health and/or the … LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing … by analysis of massively parallel sequencing data sets. Gene Med , 2015. [In Press]  Amendola LM, Dorschner MO, …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… The instructions in a gene that tell the cell how to make a specific protein. … Genetic code refers to the instructions contained in a gene that tell a cell how to make a specific protein. Each gene’s code uses the four nucleotide bases of DNA: adenine … The instructions in a gene that tell the cell how to make a specific protein. …
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
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… that involves the production of one or more copies of a gene or region of a chromosome. … that involves the production of one or more copies of a gene or region of a chromosome. …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… is one whose phenotype is influenced by more than one gene. … Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, … is one whose phenotype is influenced by more than one gene. …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning …