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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
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 … Positional cloning is a laboratory approach …
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 …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Base Pair, … polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Educational Resources …
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, …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… understanding of the relationship between human genetic variation and population differences in disease distribution, … lend tremendous insight into the current human genetic variation represented by various ethnicities around the … on Africa is essential, it is equally important to explore variation represented by other populations. The DNA helix …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… Genetic Code … 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 …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… genome-editing research. … In light of recent advances in gene-editing research and technologies, the National … decision making for the responsible use of human gene-editing research. This initiative examined the clinical, ethical, legal and social implications of human gene editing. Their efforts included an international summit …
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 …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… It is important to understand the components of gene therapy, how these components differ and other treatment … cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor. Gene therapy  In gene therapy , your stem cells are changed …