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Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… Genome Sequencing Informatics Tools (GS-IT) provides "researcher … Genome Sequencing Informatics Tools … Genome Sequencing Informatics Tools …
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, … inactivation prevents females from having twice as many X chromosome gene products as males, who possess only a single …
Educational Resources
Diploid is a cell or organism that has paired chromosomes, one from each parent.
… in an organism’s cells, with each parent contributing a chromosome to each pair. Humans are diploid, and most of the …
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.
… production of one or more copies of a gene or region of a chromosome. … Mutation, Chromosome, Genes, Evolution … production of one or more copies of a gene or region of a chromosome. …
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 …
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. … 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.
… 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.
… Mitosis, Meiosis, Cell Biology, DNA, Chromosome …
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 … variants and other DNA sequences of interest) within a chromosome or genome. Historically, there have been two …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate … like putting together a jigsaw puzzle, and different DNA sequencing technologies generate different types of genomic … researchers tested Verkko with human and non-human genome sequencing data. The software quickly and precisely assembled …