A physical map of the human genome. 2001

J D McPherson, and M Marra, and L Hillier, and R H Waterston, and A Chinwalla, and J Wallis, and M Sekhon, and K Wylie, and E R Mardis, and R K Wilson, and R Fulton, and T A Kucaba, and C Wagner-McPherson, and W B Barbazuk, and S G Gregory, and S J Humphray, and L French, and R S Evans, and G Bethel, and A Whittaker, and J L Holden, and O T McCann, and A Dunham, and C Soderlund, and C E Scott, and D R Bentley, and G Schuler, and H C Chen, and W Jang, and E D Green, and J R Idol, and V V Maduro, and K T Montgomery, and E Lee, and A Miller, and S Emerling, and Kucherlapati, and R Gibbs, and S Scherer, and J H Gorrell, and E Sodergren, and K Clerc-Blankenburg, and P Tabor, and S Naylor, and D Garcia, and P J de Jong, and J J Catanese, and N Nowak, and K Osoegawa, and S Qin, and L Rowen, and A Madan, and M Dors, and L Hood, and B Trask, and C Friedman, and H Massa, and V G Cheung, and I R Kirsch, and T Reid, and R Yonescu, and J Weissenbach, and T Bruls, and R Heilig, and E Branscomb, and A Olsen, and N Doggett, and J F Cheng, and T Hawkins, and R M Myers, and J Shang, and L Ramirez, and J Schmutz, and O Velasquez, and K Dixon, and N E Stone, and D R Cox, and D Haussler, and W J Kent, and T Furey, and S Rogic, and S Kennedy, and S Jones, and A Rosenthal, and G Wen, and M Schilhabel, and G Gloeckner, and G Nyakatura, and R Siebert, and B Schlegelberger, and J Korenberg, and X N Chen, and A Fujiyama, and M Hattori, and A Toyoda, and T Yada, and H S Park, and Y Sakaki, and N Shimizu, and S Asakawa, and K Kawasaki, and T Sasaki, and A Shintani, and A Shimizu, and K Shibuya, and J Kudoh, and S Minoshima, and J Ramser, and P Seranski, and C Hoff, and A Poustka, and R Reinhardt, and H Lehrach, and
Washington University School of Medicine, Genome Sequencing Center, Department of Genetics, St. Louis, Missouri 63108, USA. jmcphers@watson.wustl.edu

The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate assembly of the genome sequence. Here we report the construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions. We also describe the integration of sequence data with the map.

UI MeSH Term Description Entries
D012091 Repetitive Sequences, Nucleic Acid Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). DNA Repetitious Region,Direct Repeat,Genes, Selfish,Nucleic Acid Repetitive Sequences,Repetitive Region,Selfish DNA,Selfish Genes,DNA, Selfish,Repetitious Region, DNA,Repetitive Sequence,DNA Repetitious Regions,DNAs, Selfish,Direct Repeats,Gene, Selfish,Repeat, Direct,Repeats, Direct,Repetitious Regions, DNA,Repetitive Regions,Repetitive Sequences,Selfish DNAs,Selfish Gene
D003001 Cloning, Molecular The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells. Molecular Cloning
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015894 Genome, Human The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs. Human Genome,Genomes, Human,Human Genomes
D016172 DNA Fingerprinting A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population. DNA Fingerprints,DNA Profiling,DNA Typing,Genetic Fingerprinting,DNA Fingerprint,DNA Fingerprintings,DNA Profilings,DNA Typings,Fingerprint, DNA,Fingerprinting, DNA,Fingerprinting, Genetic,Fingerprintings, DNA,Fingerprintings, Genetic,Fingerprints, DNA,Genetic Fingerprintings,Profiling, DNA,Typing, DNA,Typings, DNA
D017404 In Situ Hybridization, Fluorescence A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH
D020440 Gene Duplication Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. Duplication, Gene,Duplications, Gene,Gene Duplications
D020451 Contig Mapping Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome. Mapping, Contig
D022202 Chromosomes, Artificial, Bacterial DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes. Artificial Chromosomes, Bacterial,Bacterial Artificial Chromosomes,BAC (Chromosome),BACs (Chromosomes),Chromosomes, Bacterial Artificial,Artificial Chromosome, Bacterial,Bacterial Artificial Chromosome,Chromosome, Bacterial Artificial

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