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从扭曲到碱基对:提高纳米孔测序读取准确性的计算方法。

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy.

机构信息

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584, CG, Utrecht, The Netherlands.

出版信息

Genome Biol. 2018 Jul 13;19(1):90. doi: 10.1186/s13059-018-1462-9.

Abstract

Nanopore sequencing is a rapidly maturing technology delivering long reads in real time on a portable instrument at low cost. Not surprisingly, the community has rapidly taken up this new way of sequencing and has used it successfully for a variety of research applications. A major limitation of nanopore sequencing is its high error rate, which despite recent improvements to the nanopore chemistry and computational tools still ranges between 5% and 15%. Here, we review computational approaches determining the nanopore sequencing error rate. Furthermore, we outline strategies for translation of raw sequencing data into base calls for detection of base modifications and for obtaining consensus sequences.

摘要

纳米孔测序是一项快速发展的技术,可在便携式仪器上实时提供长读长,并以低成本提供。毫不奇怪,该领域已经迅速采用了这种新的测序方法,并成功地将其应用于各种研究应用。纳米孔测序的一个主要限制是其错误率高,尽管纳米孔化学和计算工具最近有所改进,但仍在 5%至 15%之间。在这里,我们回顾了确定纳米孔测序错误率的计算方法。此外,我们概述了将原始测序数据转换为碱基调用的策略,用于检测碱基修饰和获得共识序列。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6910/6045860/4fcce4c6f463/13059_2018_1462_Fig1_HTML.jpg

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