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Human chromosome 7: DNA sequence and biology.
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.
Pubmed ID: 12690205
Scherer SW Cheung J MacDonald JR Osborne LR Nakabayashi K Herbrick JA Carson AR Parker-Katiraee L Skaug J Khaja R Zhang J Hudek AK Li M Haddad M Duggan GE Fernandez BA Kanematsu E Gentles S Christopoulos CC Choufani S Kwasnicka D Zheng XH Lai Z Nusskern D Zhang Q Gu Z Lu F Zeesman S Nowaczyk MJ Teshima I Chitayat D Shuman C Weksberg R Zackai EH Grebe TA Cox SR Kirkpatrick SJ Rahman N Friedman JM Heng HH Pelicci PG Lo-Coco F Belloni E Shaffer LG Pober B Morton CC Gusella JF Bruns GA Korf BR Quade BJ Ligon AH Ferguson H Higgins AW Leach NT Herrick SR Lemyre E Farra CG Kim HG Summers AM Gripp KW Roberts W Szatmari P Winsor EJ Grzeschik KH Teebi A Minassian BA Kere J Armengol L Pujana MA Estivill X Wilson MD Koop BF Tosi S Moore GE Boright AP Zlotorynski E Kerem B Kroisel PM Petek E Oscier DG Mould SJ Döhner H Döhner K Rommens JM Vincent JB Venter JC Li PW Mural RJ Adams MD Tsui LC
Science (New York, N.Y.)
May 2, 2003
Agency: Canadian Institutes of Health Research, Id: 38103
Animals Autistic Disorder Chromosome Aberrations Chromosome Fragile Sites Chromosome Fragility Chromosome Mapping Chromosomes, Human, Pair 7 Computational Biology Congenital Abnormalities CpG Islands DNA, Complementary Databases, Genetic Euchromatin Expressed Sequence Tags Gene Duplication Genes, Overlapping Genetic Diseases, Inborn Genomic Imprinting Humans In Situ Hybridization, Fluorescence Limb Deformities, Congenital Mice Molecular Sequence Data Mutation Neoplasms Pseudogenes RNA Retroelements Sequence Analysis, DNA Williams Syndrome