Balanced Chromosomal Rearrangement Detection by Low‐Pass Whole‐Genome Sequencing
| العنوان: | Balanced Chromosomal Rearrangement Detection by Low‐Pass Whole‐Genome Sequencing |
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| المؤلفون: | Huilin Wang, Yang Zhenjun, Hui Jiang, Cynthia C. Morton, Jianying Yuan, Kwong Wai Choy, Fang Chen, Xiaosen Guo, Yun Li, Haixiao Chen, Zirui Dong, Sau Wai Cheung, Lingfei Ye, Jun Wang |
| المصدر: | Current Protocols in Human Genetics. 96 |
| بيانات النشر: | Wiley, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Genomic data, Chromosome Disorders, Computational biology, Balanced Chromosomal Rearrangement, Biology, Translocation, Genetic, Article, 03 medical and health sciences, chemistry.chemical_compound, Chromosome analysis, Genetics, Humans, 1000 Genomes Project, Genetics (clinical), Chromosome Aberrations, Whole genome sequencing, Whole Genome Sequencing, Genome, Human, Breakpoint, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Chromosome, 030104 developmental biology, chemistry, DNA |
| الوصف: | Balanced chromosomal rearrangements (or balanced chromosome abnormalities, BCAs) are common chromosomal structural variants. Emerging studies have demonstrated the feasibility of using whole-genome sequencing (WGS) for detection of BCA-associated breakpoints, but the requirement for a priori knowledge of the rearranged regions from G-banded chromosome analysis limits its application. The protocols described here are based on low-pass WGS for detecting BCA events independent from chromosome analysis, and has been validated using genomic data from the 1000 Genomes Project. This approach adopts non-size-selected mate-pair library (3∼8 kb) with 2∼3 μg DNA as input, and requires only 30 million read-pairs (50 bp, equivalent to 1-fold base-coverage) for each sample. The complete procedure takes 13 days and the total cost is estimated to be less than $600 (USD) per sample. © 2018 by John Wiley & Sons, Inc. |
| تدمد: | 1934-8258 1934-8266 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22f654d502f19c12d56e0c143c4e9b1 https://doi.org/10.1002/cphg.51 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....b22f654d502f19c12d56e0c143c4e9b1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19348258 19348266 |
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