{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T19:05:21Z","timestamp":1787684721414,"version":"build-2784847793"},"reference-count":32,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5620","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2003,5,2]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1126\/science.1083423","type":"journal-article","created":{"date-parts":[[2003,5,1]],"date-time":"2003-05-01T20:53:52Z","timestamp":1051822432000},"page":"767-772","source":"Crossref","is-referenced-by-count":162,"title":["Human Chromosome 7: DNA Sequence and Biology"],"prefix":"10.1126","volume":"300","author":[{"given":"Stephen W.","family":"Scherer","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8."},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8."},{"name":"The Child Development Centre, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8."},{"name":"Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 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The sequence assembly is at www.chr7.org\/ and in the Third Party Annotation Section of the DDBJ\/EMBL\/GenBank databases under the accession number TPA: BL000001. The scaffolds are in DDBJ\/EMBL\/GenBank under the project accession number AACC00000000. The version described in this paper is the first version AACC01000000. Individual accession numbers of the scaffolds are AACC01000001 AACC01000002 AACC01000003 AACC01000004 AACC01000005 AACC01000006 AACC01000007 AACC01000008 AACC01000009 AACC01000010 AACC01000011 AACC01000012 AACC01000013 AACC01000014 AACC01000015 AACC01000016 AACC01000017 AACC01000018 AACC01000019 AACC01000020 AACC01000021 AACC01000022 AACC01000023 AACC01000024 AACC01000025 and AACC01000026. The annotation data and analyses based on the CRA_TCAGchr7.v1 assembly described in this paper are shown (and are archived) as the March 2003 database freeze (see www.chr7.org\/). Additional annotations or updates to the sequence assembly will be available as subsequent freezes. The Washington University Genome Sequencing Center has also produced an assembly and analysis of human chromosome 7 (L. Hillier et al. Nature in press)."},{"key":"e_1_3_2_9_2","first-page":"1599","volume":"10","year":"2002","unstructured":"L. D. 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Genet. 3, 571 (1998).","journal-title":"Human Mol. Genet."},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1086\/303011"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/35097076"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1345"},{"key":"e_1_3_2_32_2","first-page":"159","volume":"2","year":"1999","unstructured":"K. Kobayashi et al., Nature Genet.2, 159 (1999).","journal-title":"Nature Genet."},{"key":"e_1_3_2_33_2","unstructured":"We thank The Centre for Applied Genomics at The Hospital for Sick Children (HSC) and Celera Genomics as well as clinical collaborators and families. Supported by Genome Canada the Canadian Institutes of Health Research the Canadian Genetic Diseases Network the Howard Hughes Medical Institute International Scholar Program (to S.W.S.) and the HSC Foundation. We also thank groups worldwide for contributing genomic information to databases."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1083423","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T04:23:01Z","timestamp":1704860581000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1083423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,2]]},"references-count":32,"journal-issue":{"issue":"5620","published-print":{"date-parts":[[2003,5,2]]}},"alternative-id":["10.1126\/science.1083423"],"URL":"https:\/\/doi.org\/10.1126\/science.1083423","relation":{},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,2]]}}}