Shotgun sequence assembly and recent segmental duplications within the human genome
| العنوان: | Shotgun sequence assembly and recent segmental duplications within the human genome |
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| المؤلفون: | Ze Cheng, Ge Liu, Eray Tüzün, Evan E. Eichler, Deanna M. Church, Zhaoshi Jiang, Xinwei She, Granger G. Sutton, Royden A. Clark, Aaron L. Halpern |
| المصدر: | Nature. 431:927-930 |
| بيانات النشر: | Springer Science and Business Media LLC, 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | Genetics, Multidisciplinary, Genome, Human, Sequence analysis, Computational Biology, Sequence assembly, Sequence alignment, Genomics, Sequence Analysis, DNA, Computational biology, Biology, Physical Chromosome Mapping, Sensitivity and Specificity, Genome, Mice, Genes, Duplicate, Gene Duplication, Animals, Chromosomes, Human, Humans, Human genome, Shotgun Sequence Assembly, Repeated sequence, Sequence Alignment, Segmental duplication |
| الوصف: | Complex eukaryotic genomes are now being sequenced at an accelerated pace primarily using whole-genome shotgun (WGS) sequence assembly approaches. WGS assembly was initially criticized because of its perceived inability to resolve repeat structures within genomes. Here, we quantify the effect of WGS sequence assembly on large, highly similar repeats by comparison of the segmental duplication content of two different human genome assemblies. Our analysis shows that large (> 15 kilobases) and highly identical (> 97%) duplications are not adequately resolved by WGS assembly. This leads to significant reduction in genome length and the loss of genes embedded within duplications. Comparable analyses of mouse genome assemblies confirm that strict WGS sequence assembly will oversimplify our understanding of mammalian genome structure and evolution; a hybrid strategy using a targeted clone-by-clone approach to resolve duplications is proposed. |
| تدمد: | 1476-4687 0028-0836 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e60b68d1b7aca4f0089481e6dbdfca1 https://doi.org/10.1038/nature03062 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....7e60b68d1b7aca4f0089481e6dbdfca1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14764687 00280836 |
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