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Human Genome - A widely used method of determining the order of bases in DNA. See also: sequencing, shotgun sequencing
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, sequence, Sequence assembly, Sequencing technology, Shotgun method, shotgun sequencing, Structural genomics
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Human Genome - In genomic mapping, a series of contigs that are in the right order but not necessarily connected in one continuous stretch of sequence.
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Directed sequencing, Expressed sequence tag (EST), GC-rich area, Gene prediction, homeobox, microsatellite, repetitive DNA, Sequence-tagged site (STS), Tandem repeat sequences, Transposable element
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Human Genome - See: base sequence
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, Sanger sequencing, Sequence assembly, Sequencing technology, Shotgun method, shotgun sequencing, Structural genomics
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Human Genome - A process whereby the order of multiple sequenced DNA fragments is determined.
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, Sanger sequencing, sequence, Sequencing technology, Shotgun method, shotgun sequencing, Structural genomics
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Human Genome - Short (200 to 500 base pairs) DNA sequence that has a single occurrence in the human genome and whose location and base sequence are known. Detectable by polymerase chain reaction, STSs are useful for localizing and orienting the mapping and sequence data reported from many different laboratories and serve as landmarks on the developing physical map of the human genome. Expressed sequence tags (ESTs) are STSs derived from cDNAs.
Human Genome Project - Cite This Source - This Definition - A short DNA segment that occurs only once in the human genome and whose exact location and order of bases are known. Because each is unique, STSs are helpful for chromosome placement of mapping and sequencing data from many different laboratories. STSs serve as landmarks on the physical map of the human genome. See also chromosome, genome, mapping
National Human Genome Research Institute - Cite This Source - This Definition - Browse Related Terms: Directed sequencing, Expressed sequence tag (EST), GC-rich area, Gene prediction, homeobox, microsatellite, repetitive DNA, scaffold, Tandem repeat sequences, Transposable element
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Human Genome - The instrumentation and procedures used to determine the order of nucleotides in DNA.
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, Sanger sequencing, sequence, Sequence assembly, Shotgun method, shotgun sequencing, Structural genomics
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Human Genome - Traits or diseases associated with the X or Y chromosome; generally seen in males. See also: gene, mutation, sex chromosome
Human Genome Project - Cite This Source - This Definition - Located on the X chromosome. Sex-linked (or x-linked) diseases are generally seen only in males. See also gene, mutation
National Human Genome Research Institute - Cite This Source - This Definition - Browse Related Terms: Autosome, Chromosome, Genome, human artificial chromosome (HAC), Micronuclei, Nucleus, sex chromosome, Y-chromosome
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Human Genome - Sequencing method that involves randomly sequenced cloned pieces of the genome, with no foreknowledge of where the piece originally came from. This can be contrasted with "directed" strategies, in which pieces of DNA from known chromosomal locations are sequenced. Because there are advantages to both strategies, researchers use both random (or shotgun) and directed strategies in combination to sequence the human genome. See also: library, genomic library
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, Sanger sequencing, sequence, Sequence assembly, Sequencing technology, shotgun sequencing, Structural genomics
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Human Genome - An approach used to decode an organism's genome by shredding it into smaller fragments of DNA which can be sequenced individually. The sequences of these fragments are then ordered, based on overlaps in the genetic code, and finally reassembled into the complete sequence. The 'whole genome shotgun' method is applied to the entire genome all at once, while the 'hierarchical shotgun' method is applied to large, overlapping DNA fragments of known location in the genome. See also genome, mapping
National Human Genome Research Institute - Cite This Source - This Definition - Browse Related Terms: Base sequence, Base sequence analysis, Complementary sequence, DNA sequence, DNA sequencing, Full gene sequence, Genomic sequence, High-throughput sequencing, Regulatory region or sequence, Sanger sequencing, sequence, Sequence assembly, Sequencing technology, Shotgun method, Structural genomics
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Human Genome - A blood condition seen most commonly in people of African ancestry. The disorder is caused by a single base pair change in one of the genes that codes for hemoglobin, the blood protein that carries oxygen. This mutation causes the red blood cells to take on a sickle shape, rather than their characteristic donut shape. Individuals who suffer from sickle cell disease are chronically anemic and experience significant damage to their heart, lungs, and kidneys. See also gene, cell, protein, recessive
National Human Genome Research Institute - Cite This Source - This Definition - Browse Related Terms: Carcinogen, Directed evolution, Mutagen, Mutagenicity, Mutation, Teratogenic
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Human Genome - Hereditary disorder caused by a mutant allele of a single gene (e.g., Duchenne muscular dystrophy, retinoblastoma, sickle cell disease). See also: polygenic disorders
Human Genome Project - Cite This Source - This Definition - Browse Related Terms: Diabetes mellitus, Monogenic disorder, Monogenic inheritance, Multifactorial or multigenic disorder, Oligogenic, Polygenic disorder, Suppressor gene, Wolfram syndrome