دورية أكاديمية
Integration of cytogenetic landmarks into the draft sequence of the human genome.
العنوان: | Integration of cytogenetic landmarks into the draft sequence of the human genome. |
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المؤلفون: | Cheung VG; Department of Pediatrics, University of Pennsylvania, The Children's Hospital of Philadelphia, 19104, USA., Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ |
مؤلفون مشاركون: | BAC Resource Consortium |
المصدر: | Nature [Nature] 2001 Feb 15; Vol. 409 (6822), pp. 953-8. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. |
اللغة: | English |
بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Print ISSN: 0028-0836 (Print) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Basingstoke : Nature Publishing Group Original Publication: London, Macmillan Journals ltd. |
مواضيع طبية MeSH: | Chromosome Aberrations* , Genetic Markers* , Genome, Human*, Chromosome Mapping ; Chromosomes, Artificial, Bacterial ; Cytogenetic Analysis ; Human Genome Project ; Humans ; In Situ Hybridization, Fluorescence ; Radiation Hybrid Mapping ; Sequence Tagged Sites |
مستخلص: | We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer. |
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معلومات مُعتمدة: | P01 GM061354 United States GM NIGMS NIH HHS |
المشرفين على المادة: | 0 (Genetic Markers) |
تواريخ الأحداث: | Date Created: 20010310 Date Completed: 20010322 Latest Revision: 20220218 |
رمز التحديث: | 20231215 |
مُعرف محوري في PubMed: | PMC7845515 |
DOI: | 10.1038/35057192 |
PMID: | 11237021 |
قاعدة البيانات: | MEDLINE |
تدمد: | 0028-0836 |
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DOI: | 10.1038/35057192 |