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Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … Sequencing DNA means determining the order of the four … the pairing also underlies the methods by which most DNA sequencing experiments are done. The human genome contains … (NHGRI) Genome Technology Program and its Advanced DNA Sequencing Technology awards. One of NHGRI's goals is to …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with … is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with …
Educational Resources
Translocation is a type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosome.
… is a type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosome. … Chromosome, Karyotype, Mutation, Spectral Karyotype (SKY) … A translocation, as related to genetics, occurs when a chromosome breaks and the (typically two) fragmented pieces …
Educational Resources
A tandem repeat is a sequence of two or more DNA base pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome.
… a way that the repeats lie adjacent to each other on the chromosome. … Base Pair, Chromosome, Deoxyribonucleic Acid (DNA), DNA Fingerprinting, … is repeated numerous times in a head-to-tail manner on a chromosome. Tandem repeats are generally present in … a way that the repeats lie adjacent to each other on the chromosome. …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… Human Genome Research Institute's (NHGRI) flagship Genome Sequencing Program (GSP) at a July 28 - 29 meeting in … The workshop, "Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National … significant projects that push the boundaries of genome sequencing technology applications and develop important data …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers … The NHGRI Genome Sequencing Program (GSP) has evolved from NIH's participation in the International Human Genome Sequencing Project (HGP). In addition to creating an … resources and tools. The specific activities of the Genome Sequencing Program since the end of the HGP reflect changes …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made … disease; improved the analysis and interpretation of DNA sequencing results; and provided new insights into the … Maryland, for a one-day conference, Integrating Genomic Sequencing into Clinical Care: CSER and Beyond . The meeting …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … two-day meeting, titled, Future Opportunities for Genome Sequencing and Beyond: A Planning workshop for the National … clinic. In addition to the long-established Large-Scale Sequencing and Analysis Center (LSAC) program, the GSP now …
Talking Glossary
Nanopore DNA sequencing is a laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule.
… Nanopore DNA Sequencing … Nanopore DNA sequencing is a laboratory technique for determining the … Nanopore DNA sequencing is a laboratory technique for determining the … that cells use to develop and operate. Nanopore DNA sequencing involves reading the code of single DNA strands as …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 live born … syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a blood or skin sample to look for an extra chromosome 21 (trisomy 21). Trisomy 21 means that each cell …