BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
| العنوان: | BreakDancer: an algorithm for high-resolution mapping of genomic structural variation |
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| المؤلفون: | Qunyuan Zhang, Ken Chen, David E. Larson, Robert S. Fulton, Li Ding, Sean McGrath, Devin P. Locke, Richard K. Wilson, Elaine R. Mardis, Timothy J. Ley, John W. Wallis, Craig Pohl, Michael C. Wendl, Joelle Kalicki, Xiaoqi Shi, Michael D. McLellan |
| المصدر: | Nature methods |
| بيانات النشر: | Springer Science and Business Media LLC, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Base pair, Sequence analysis, Genomic Structural Variation, High resolution, Genomics, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Humans, Computer Simulation, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Base Sequence, Genome, Human, Genetic Variation, DNA, Sequence Analysis, DNA, Cell Biology, 3. Good health, Leukemia, Myeloid, Acute, 030220 oncology & carcinogenesis, Human genome, Algorithms, Biotechnology |
| الوصف: | Detection and characterization of genomic structural variation are important for understanding the landscape of genetic variation in human populations and in complex diseases such as cancer. Recent studies demonstrate the feasibility of detecting structural variation using next-generation, short-insert, paired-end sequencing reads. However, the utility of these reads is not entirely clear, nor are the analysis methods with which accurate detection can be achieved. The algorithm BreakDancer predicts a wide variety of structural variants including insertion-deletions (indels), inversions and translocations. We examined BreakDancer's performance in simulation, in comparison with other methods and in analyses of a sample from an individual with acute myeloid leukemia and of samples from the 1,000 Genomes trio individuals. BreakDancer sensitively and accurately detected indels ranging from 10 base pairs to 1 megabase pair that are difficult to detect via a single conventional approach. |
| تدمد: | 1548-7105 1548-7091 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86dcf8c4d6373537d5c371875abe6697 https://doi.org/10.1038/nmeth.1363 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....86dcf8c4d6373537d5c371875abe6697 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15487105 15487091 |
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