Sović Ivan, Šikić Mile, Wilm Andreas, Fenlon Shannon Nicole, Chen Swaine, Nagarajan Niranjan
Computational &Systems Biology, Genome Institute of Singapore, 60 Biopolis Street, #02-01 Genome, Singapore 138672, Singapore.
Centre for Informatics and Computing, Ruđer Bošković Institute, Bijenička 54, 10000 Zagreb, Croatia.
Nat Commun. 2016 Apr 15;7:11307. doi: 10.1038/ncomms11307.
Realizing the democratic promise of nanopore sequencing requires the development of new bioinformatics approaches to deal with its specific error characteristics. Here we present GraphMap, a mapping algorithm designed to analyse nanopore sequencing reads, which progressively refines candidate alignments to robustly handle potentially high-error rates and a fast graph traversal to align long reads with speed and high precision (>95%). Evaluation on MinION sequencing data sets against short- and long-read mappers indicates that GraphMap increases mapping sensitivity by 10-80% and maps >95% of bases. GraphMap alignments enabled single-nucleotide variant calling on the human genome with increased sensitivity (15%) over the next best mapper, precise detection of structural variants from length 100 bp to 4 kbp, and species and strain-specific identification of pathogens using MinION reads. GraphMap is available open source under the MIT license at https://github.com/isovic/graphmap.
要实现纳米孔测序的民主前景,需要开发新的生物信息学方法来处理其特定的错误特征。在此,我们展示了GraphMap,这是一种旨在分析纳米孔测序读数的映射算法,它逐步优化候选比对,以稳健地处理潜在的高错误率,并通过快速的图遍历以高速度和高精度(>95%)比对长读数。针对短读长和长读长映射器对MinION测序数据集进行的评估表明,GraphMap将映射灵敏度提高了10 - 80%,并映射了>95%的碱基。GraphMap比对能够在人类基因组上进行单核苷酸变异检测,其灵敏度比次优映射器提高了15%,能够精确检测长度从100 bp到4 kbp的结构变异,并使用MinION读数对病原体进行物种和菌株特异性鉴定。GraphMap在MIT许可下以开源形式提供,可在https://github.com/isovic/graphmap获取。