%0 Journal Article %J Nature %D 2001 %T Initial sequencing and analysis of the human genome. %A Lander, E S %A Linton, L M %A Birren, B %A Nusbaum, C %A Zody, M C %A Baldwin, J %A Devon, K %A Dewar, K %A Doyle, M %A FitzHugh, W %A Funke, R %A Gage, D %A Harris, K %A Heaford, A %A Howland, J %A Kann, L %A Lehoczky, J %A LeVine, R %A McEwan, P %A McKernan, K %A Meldrim, J %A Mesirov, J P %A Miranda, C %A Morris, W %A Naylor, J %A Raymond, C %A Rosetti, M %A Santos, R %A Sheridan, A %A Sougnez, C %A Stange-Thomann, Y %A Stojanovic, N %A Subramanian, A %A Wyman, D %A Rogers, J %A Sulston, J %A Ainscough, R %A Beck, S %A Bentley, D %A Burton, J %A Clee, C %A Carter, N %A Coulson, A %A Deadman, R %A Deloukas, P %A Dunham, A %A Dunham, I %A Durbin, R %A French, L %A Grafham, D %A Gregory, S %A Hubbard, T %A Humphray, S %A Hunt, A %A Jones, M %A Lloyd, C %A McMurray, A %A Matthews, L %A Mercer, S %A Milne, S %A Mullikin, J C %A Mungall, A %A Plumb, R %A Ross, M %A Shownkeen, R %A Sims, S %A Waterston, R H %A Wilson, R K %A Hillier, L W %A McPherson, J D %A Marra, M A %A Mardis, E R %A Fulton, L A %A Chinwalla, A T %A Pepin, K H %A Gish, W R %A Chissoe, S L %A Wendl, M C %A Delehaunty, K D %A Miner, T L %A Delehaunty, A %A Kramer, J B %A Cook, L L %A Fulton, R S %A Johnson, D L %A Minx, P J %A Clifton, S W %A Hawkins, T %A Branscomb, E %A Predki, P %A Richardson, P %A Wenning, S %A Slezak, T %A Doggett, N %A Cheng, J F %A Olsen, A %A Lucas, S %A Elkin, C %A Uberbacher, E %A Frazier, M %A Richard A Gibbs %A Donna M Muzny %A Steven E Scherer %A Bouck, J B %A Sodergren, E J %A Worley, K C %A Rives, C M %A Gorrell, J H %A Metzker, M L %A Naylor, S L %A Kucherlapati, R S %A Nelson, D L %A Weinstock, G M %A Sakaki, Y %A Fujiyama, A %A Hattori, M %A Yada, T %A Toyoda, A %A Itoh, T %A Kawagoe, C %A Watanabe, H %A Totoki, Y %A Taylor, T %A Weissenbach, J %A Heilig, R %A Saurin, W %A Artiguenave, F %A Brottier, P %A Bruls, T %A Pelletier, E %A Robert, C %A Wincker, P %A Smith, D R %A Doucette-Stamm, L %A Rubenfield, M %A Weinstock, K %A Lee, H M %A Dubois, J %A Rosenthal, A %A Platzer, M %A Nyakatura, G %A Taudien, S %A Rump, A %A Yang, H %A Yu, J %A Wang, J %A Huang, G %A Gu, J %A Hood, L %A Rowen, L %A Madan, A %A Qin, S %A Davis, R W %A Federspiel, N A %A Abola, A P %A Proctor, M J %A Myers, R M %A Schmutz, J %A Dickson, M %A Grimwood, J %A Cox, D R %A Olson, M V %A Kaul, R %A Raymond, C %A Shimizu, N %A Kawasaki, K %A Minoshima, S %A Evans, G A %A Athanasiou, M %A Schultz, R %A Roe, B A %A Chen, F %A Pan, H %A Ramser, J %A Lehrach, H %A Reinhardt, R %A McCombie, W R %A de la Bastide, M %A Dedhia, N %A Blöcker, H %A Hornischer, K %A Nordsiek, G %A Agarwala, R %A Aravind, L %A Bailey, J A %A Bateman, A %A Batzoglou, S %A Birney, E %A Bork, P %A Brown, D G %A Burge, C B %A Cerutti, L %A Chen, H C %A Church, D %A Clamp, M %A Copley, R R %A Doerks, T %A Eddy, S R %A Eichler, E E %A Furey, T S %A Galagan, J %A Gilbert, J G %A Harmon, C %A Hayashizaki, Y %A Haussler, D %A Hermjakob, H %A Hokamp, K %A Jang, W %A Johnson, L S %A Jones, T A %A Kasif, S %A Kaspryzk, A %A Kennedy, S %A Kent, W J %A Kitts, P %A Koonin, E V %A Korf, I %A Kulp, D %A Lancet, D %A Lowe, T M %A McLysaght, A %A Mikkelsen, T %A Moran, J V %A Mulder, N %A Pollara, V J %A Ponting, C P %A Schuler, G %A Schultz, J %A Slater, G %A Smit, A F %A Stupka, E %A Szustakowki, J %A Thierry-Mieg, D %A Thierry-Mieg, J %A Wagner, L %A Wallis, J %A Wheeler, R %A Williams, A %A Wolf, Y I %A Wolfe, K H %A Yang, S P %A Yeh, R F %A Collins, F %A Guyer, M S %A Peterson, J %A Felsenfeld, A %A Wetterstrand, K A %A Patrinos, A %A Morgan, M J %A de Jong, P %A Catanese, J J %A Osoegawa, K %A Shizuya, H %A Choi, S %A Chen, Y J %A Szustakowki, J %K Animals %K Chromosome Mapping %K Conserved Sequence %K CpG Islands %K Databases, Factual %K DNA Transposable Elements %K Drug Industry %K Evolution, Molecular %K Forecasting %K GC Rich Sequence %K Gene Duplication %K Genes %K Genetic Diseases, Inborn %K Genetics, Medical %K Genome, Human %K Human Genome Project %K Humans %K Mutation %K Private Sector %K Proteins %K Proteome %K Public Sector %K Repetitive Sequences, Nucleic Acid %K RNA %K Sequence Analysis, DNA %K Species Specificity %X

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.

%B Nature %V 409 %P 860-921 %8 2001 Feb 15 %G eng %N 6822 %1 https://www.ncbi.nlm.nih.gov/pubmed/11237011?dopt=Abstract %R 10.1038/35057062 %0 Journal Article %J Nature %D 2001 %T A physical map of the human genome. %A McPherson, J D %A Marra, M %A Hillier, L %A Waterston, R H %A Chinwalla, A %A Wallis, J %A Sekhon, M %A Wylie, K %A Mardis, E R %A Wilson, R K %A Fulton, R %A Kucaba, T A %A Wagner-McPherson, C %A Barbazuk, W B %A Gregory, S G %A Humphray, S J %A French, L %A Evans, R S %A Bethel, G %A Whittaker, A %A Holden, J L %A McCann, O T %A Dunham, A %A Soderlund, C %A Scott, C E %A Bentley, D R %A Schuler, G %A Chen, H C %A Jang, W %A Green, E D %A Idol, J R %A Maduro, V V %A Montgomery, K T %A Lee, E %A Miller, A %A Emerling, S %A Richard A Gibbs %A Scherer, S %A Gorrell, J H %A Sodergren, E %A Clerc-Blankenburg, K %A Tabor, P %A Naylor, S %A Garcia, D %A de Jong, P J %A Catanese, J J %A Nowak, N %A Osoegawa, K %A Qin, S %A Rowen, L %A Madan, A %A Dors, M %A Hood, L %A Trask, B %A Friedman, C %A Massa, H %A Cheung, V G %A Kirsch, I R %A Reid, T %A Yonescu, R %A Weissenbach, J %A Bruls, T %A Heilig, R %A Branscomb, E %A Olsen, A %A Doggett, N %A Cheng, J F %A Hawkins, T %A Myers, R M %A Shang, J %A Ramirez, L %A Schmutz, J %A Velasquez, O %A Dixon, K %A Stone, N E %A Cox, D R %A Haussler, D %A Kent, W J %A Furey, T %A Rogic, S %A Kennedy, S %A Jones, S %A Rosenthal, A %A Wen, G %A Schilhabel, M %A Gloeckner, G %A Nyakatura, G %A Siebert, R %A Schlegelberger, B %A Korenberg, J %A Chen, X N %A Fujiyama, A %A Hattori, M %A Toyoda, A %A Yada, T %A Park, H S %A Sakaki, Y %A Shimizu, N %A Asakawa, S %A Kawasaki, K %A Sasaki, T %A Shintani, A %A Shimizu, A %A Shibuya, K %A Kudoh, J %A Minoshima, S %A Ramser, J %A Seranski, P %A Hoff, C %A Poustka, A %A Reinhardt, R %A Lehrach, H %K Chromosomes, Artificial, Bacterial %K Cloning, Molecular %K Contig Mapping %K DNA Fingerprinting %K Gene Duplication %K Genome, Human %K Humans %K In Situ Hybridization, Fluorescence %K Repetitive Sequences, Nucleic Acid %X

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.

%B Nature %V 409 %P 934-41 %8 2001 Feb 15 %G eng %N 6822 %1 https://www.ncbi.nlm.nih.gov/pubmed/11237014?dopt=Abstract %R 10.1038/35057157