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NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field. “We crafted our new strategic vision at an important inflection point in … Some of the complex genomic issues discussed in the new vision relate to genetic discrimination, genome editing, …
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 …
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 … March 2, 2015 in the journal Nature Genetics , provide new insights into the effects and roles of genetic variation …
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. … … goals of the Human Genome Project (HGP) was to develop new, better and cheaper tools to identify new genes and to understand their function. One of these …
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, …
Research Funding
The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… prepared to investigate the pathophysiology of these new and rare diseases. In 2008, the NIH Undiagnosed Diseases … medical centers around the United States. In 2018, new awards expanded the UDN from seven to 12 clinical sites, … and self-sustained network that fosters scientific discovery and provides expert diagnostic services for …
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 …
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 …