Discovery of large genomic inversions using long range information

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• 作者：Marzieh Eslami Rasekh ; Giorgia Chiatante ; Mattia Miroballo ; Joyce Tang…
• 关键词：Structural variation ; Long range sequencing ; Linked ; reads ; Inversion ; Read clouds
• 刊名：BMC Genomics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：3116KB
• 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
• 出版者：BioMed Central
• ISSN：1471-2164
• 卷排序：18

文摘

BackgroundAlthough many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem. This is mainly due to the fact that breakpoints of such events typically lie within segmental duplications or common repeats, which reduces the mappability of short reads. The algorithms developed within the 1000 Genomes Project to identify inversions are limited to relatively short inversions, and there are currently no available algorithms to discover large inversions using high throughput sequencing technologies.