The DNA sequence and analysis of human chromosome 14

Heilig, Roland; Eckenberg, Ralph; Petit, Jean‐Louis; Fonknechten, Nùria; Silva, Corinne Da; Cattolico, Laurence; Levy, Michael A.; Barbe, Valérie; Berardinis, Véronique de; Ureta-Vidal, Abel; Pelletier, Éric; Vico, Virginie; Anthouard, Véronique; Rowen, Lee; Madan, Anup; Qin, Shizhen; Sun, Hui; Du, Hui; Pepin, Kymberlie H.; Artiguenave, François; Robert, Caroline; Cruaud, Corinne; Brüls, Thomas; Jaillon, Olivier; Friedlander, Lucie; Samson, Gaëlle; Brottier, Philippe; Cure, Susan; Ségurens, Béatrice; Aniere, Franck; Samain, Sylvie; Crespeau, Hervé; Abbasi, Nissa; Aiach, Nathalie Giordanengo; Boscus, Didier; Dickhoff, Rachel; Dors, Monica; Dubois, Ivan; Friedman, Cynthia; Gouyvenoux, Michel; James, R. Lupski; Madan, Anuradha; Mairey–Estrada, Barbara; Mangenot, Sophie; Martins, Nathalie; Ménard, Manuela; Oztas, Sophie; Ratcliffe, Amber; Shaffer, Tristan; Trask, Barbara J.; Vacherie, Benoît; Bellemere, Chadia; Belser, Caroline; Besnard-Gonnet, Marielle; Bartol–Mavel, Delphine; Boutard, Magali; Briez-Silla, Stéphanie; Combette, Stephane; Dufossé-Laurent, Virginie; Ferron, Carolyne; Lechaplais, Christophe; Louesse, Claudine; Muselet, Delphine; Magdelenat, Ghislaine; Pateau, Emilie; Petit, Emmanuelle; Sirvain-Trukniewicz, Peggy; Trybou, Arnaud; Vega-Czarny, Nathalie; Bataille, Elodie; Bluet, Elodie; Bordelais, Isabelle; Dubois, Maria Célia de Toledo; Dumont, Corinne; Guérin, Thomas; Haffray, Sébastien; Hammadi, Rachid; Muanga, Jacqueline; Pellouin, Virginie; Robert, Dominique; Wunderle, Edith; Gauguet, Gilbert; Roy, Alice C.; Sainte-Marthe, Laurent; Verdier, Jean; Verdier-Discala, Claude; Hillier, LaDeana W.; Fulton, Lucinda A.; Mcpherson, John Douglas; Matsuda, Fumihiko; Wilson, Richard K.; Scarpelli, Claude; Gyapay, Gábor; Wincker, Patrick; Saurin, William; Quétier, Françis; Waterston, Robert H.; Hood, Leroy; Weissenbach, Jean

doi:10.1038/nature01348

Cited by 97 publications

(51 citation statements)

References 40 publications

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“…Extrapolating these chromosome 7 numbers to the human genome, one would predict that there are about 29,000 protein coding genes and 3700 putative and noncoding RNA genes, consistent with some other estimates (5,6,17). Of the known genes, 474 of 863 (55%) were found to have one or more alternatively spliced forms, comparable to those observed on chromosomes 14 (54%) and 22 (59%) (18,19).…”

Section: Chromosome 7 Functional and Structural Featuressupporting

confidence: 59%

Human Chromosome 7: DNA Sequence and Biology

Scherer

Cheung

MacDonald

et al. 2003

Science

189

133

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DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

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Section: Chromosome 7 Functional and Structural Featuressupporting

confidence: 59%

Human Chromosome 7: DNA Sequence and Biology

Scherer

Cheung

MacDonald

et al. 2003

Science

189

133

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show abstract

“…Forty-one putative gene loci were modelled using orthologous mouse cDNA sequences. Twenty transfer RNA genes and four tRNA pseudogenes were predicted, similar in density to other finished chromosomes [11][12][13] . The extent of alternative splicing was characterized based on the existing cDNA and EST data.…”

Section: Gene Cataloguementioning

confidence: 77%

“…Recombination distances from the deCODE 10 meiotic maps were compared to physical distances with recombination rates accurately tracking physical distance (see Supplementary Fig. S2), as previously reported for other chromosomes [11][12][13] .…”

Section: Mapping and Sequencingmentioning

confidence: 99%

The DNA sequence and comparative analysis of human chromosome 5

Schmutz¹,

Martin²,

Terry³

et al. 2004

Nature

114

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“…Finished chromosome sequence papers have now been published for 9 of the 24 human chromosomes [5][6][7][8][9][10][11][12][13] , with most of these papers estimating that the chromosomal sequence exceeds the 99.99% accuracy measure. To provide a more uniform picture of the finished sequence quality of the human genome, the National Human Genome Research Institute (NHGRI) solicited us to perform a detailed evaluation of the DNA sequence data that was generated for the HGP by seven of the IHGSC centres.…”

mentioning

confidence: 99%