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- Title
Human chromosome 7: DNA sequence and biology.
- Authors
Scherer, Stephen W; Cheung, Joseph; MacDonald, Jeffrey R; Osborne, Lucy R; Nakabayashi, Kazuhiko; Herbrick, Jo-Anne; Carson, Andrew R; Parker-Katiraee, Layla; Skaug, Jennifer; Khaja, Razi; Zhang, Junjun; Hudek, Alexander K; Li, Martin; Haddad, May; Duggan, Gavin E; Fernandez, Bridget A; Kanematsu, Emiko; Gentles, Simone; Christopoulos, Constantine C; Choufani, Sanaa; Kwasnicka, Dorota; Zheng, Xiangqun H; Lai, Zhongwu; Nusskern, Deborah; Zhang, Qing; Gu, Zhiping; Lu, Fu; Zeesman, Susan; Nowaczyk, Malgorzata J; Teshima, Ikuko; Chitayat, David; Shuman, Cheryl; Weksberg, Rosanna; Zackai, Elaine H; Grebe, Theresa A; Cox, Sarah R; Kirkpatrick, Susan J; Rahman, Nazneen; Friedman, Jan M; Heng, Henry H Q; Pelicci, Pier Giuseppe; Lo-Coco, Francesco; Belloni, Elena; Shaffer, Lisa G; Pober, Barbara; Morton, Cynthia C; Gusella, James F; Bruns, Gail A P; Korf, Bruce R; Quade, Bradley J; Ligon, Azra H; Ferguson, Heather; Higgins, Anne W; Leach, Natalia T; Herrick, Steven R; Lemyre, Emmanuelle; Farra, Chantal G; Kim, Hyung-Goo; Summers, Anne M; Gripp, Karen W; Roberts, Wendy; Szatmari, Peter; Winsor, Elizabeth J T; Grzeschik, Karl-Heinz; Teebi, Ahmed; Minassian, Berge A; Kere, Juha; Armengol, Lluis; Pujana, Miguel Angel; Estivill, Xavier; Wilson, Michael D; Koop, Ben F; Tosi, Sabrina; Moore, Gudrun E; Boright, Andrew P; Zlotorynski, Eitan; Kerem, Batsheva; Kroisel, Peter M; Petek, Erwin; Oscier, David G; Mould, Sarah J; Döhner, Hartmut; Döhner, Konstanze; Rommens, Johanna M; Vincent, John B; Venter, J Craig; Li, Peter W; Mural, Richard J; Adams, Mark D; Tsui, Lap-Chee
- Abstract
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.
- Publication
Science (New York, N.Y.), 2003, Vol 300, Issue 5620, p767
- ISSN
1095-9203
- Publication type
Journal Article
- DOI
10.1126/science.1083423