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Human Chromosome 7: DNA Sequence and Biology

2003; American Association for the Advancement of Science; Volume: 300; Issue: 5620 Linguagem: Inglês

10.1126/science.1083423

1095-9203

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Hobeika Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, S. Gentles, Constantine Christopoulos, Sanaa Choufani, Dorota A. Kwasnicka, Xiangqun Zheng-Bradley, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Małgorzata J.M. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H.Q. Heng, Pier Giuseppe Pelicci, Francesco Lo‐Coco, Elena Belloni, Lisa G. Shaffer, Barbara R. Pober, Cynthia C. Morton, James F. Gusella, G.A.P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung‐Goo Kim, Anne Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, E.J.T. Winsor, Karl‐Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluı́s Armengol, Miguel Ángel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David Oscier, Sarah Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard Mural, Mark D. Adams, Lap-Chee Tsui,

Genomics and Rare Diseases

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.