Search Results
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 …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… Oncogene … 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 …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… Exon … An exon is the portion of a gene that codes for amino acids. … Intron, DNA Sequence, DNA … of exons and introns. … An exon is the portion of a gene that codes for amino acids. … Educational Resources …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex Linked … Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex-linked, as related to genetics, … a sex-linked disorder. … Sex linked is a trait in which a gene is located on a sex chromosome. … Educational Resources …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … owners. In particular, the study found that the LCORL gene is associated with dog body weight and height. LCORL … (ex. Golden Retriever). Their analysis revealed that the gene ESR1  is associated with long legs in dogs. In humans …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… form of blindness is associated with variation in the gene for complement factor H, which produces a protein … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They … Study, the Women's Health Initiative and the Candidate Gene Association Resource, which pools DNA samples collected …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made … variant discovery, genomics and medicine, Adam Felsenfeld, gene variant discovery … NHGRI convened geneticists, …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… whereas genetics refers to the study of a particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … Genomics is a field … whereas genetics refers to the study of a particular gene. … Educational Resources …
News Release
CRGGH researchers Amy Bentley and Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides.
… a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum … and triglycerides. … The study was conducted through the Gene-Lifestyle Interactions Working Group of the Cohorts for … ancestry, highlighting the importance of diversity in gene × lifestyle studies. The manuscript describing these …
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, …