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News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… of chromosomes, including more accurate maps for five chromosome arms, which opens new lines of research. This … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … and repetitive DNA and is comparable in size to an entire chromosome. Researchers generated the complete genome …
Educational Resources
A centromere is a constricted region of a chromosome that separates it into a short arm (p) and a long arm (q).
… Centromere … A centromere is a constricted region of a chromosome that separates it into a short arm (p) and a long arm (q). … Chromatid, Chromosome, Cell Division, DNA … The centromere appears as a constricted region of a chromosome and plays a key role in helping the cell divide up …
Educational Resources
Lyonization is commonly known as X-inactivation. In mammals, males receive one copy of the X chromosome while females receive two copies.
… In mammals, males receive one copy of the X chromosome while females receive two copies. … X-linked Disease, X-inactivation, X Chromosome, Y Chromosome, … Lyonization (also called X-inactivation) refers …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… by the deletion of genetic material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- … piece) of genetic material on the small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is … The missing portion (deletion) of the short arm of chromosome 5 may be seen on a chromosome analysis. If not, a …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… and the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research … houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start in 1997 under … of its Founding Director Eric Green, NISC began DNA sequencing with six ABI 377  instruments in lab space …
Educational Resources
Mitosis is a cellular process that replicates chromosomes and produces two identical nuclei in preparation for cell division.
… for cell division. … Mitosis, Meiosis, Cell Biology, DNA, Chromosome … Mitosis is the process by which a cell …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
… diagram cataloging the genes and other features of a chromosome and showing their relative locations. … Genetic Mapping, Recombinant DNA, Genes, Chromosome … Mapping refers to the process of determining the … Today, the most efficient approach for mapping involves sequencing a genome and then using computer programs to …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… had also accomplished a series of other goals, including sequencing the genomes of a set of model organisms. In fact, … for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01) Limited …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … … markers (reflecting sites of genomic variants) on a chromosome. A genetic map is based on the concept of genetic …