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bioinformatics tools for the genome assembly and analysis based on third-generation sequencing.

Authors :
Wee, YongKiat
Bhyan, Salma Begum
Liu, Yining
Lu, Jiachun
Li, Xiaoyan
Zhao, Min
Source :
Briefings in Functional Genomics. Jan2019, Vol. 18 Issue 1, p1-12. 12p.
Publication Year :
2019

Abstract

The application of third-generation sequencing (TGS) technology in genetics and genomics have provided opportunities to categorize and explore the individual genomic landscapes and mutations relevant for diagnosis and therapy using whole genome sequencing and de novo genome assembly. In general, the emerging TGS technology can produce high quality long reads for the determination of overlapping reads and transcript isoforms. However, this technology still faces challenges such as the accuracy for the identification of nucleotide bases and high error rates. Here, we surveyed 39 TGS-related tools for de novo assembly and genome analysis to identify the differences among their characteristics, such as the required input, the interaction with the user, sequencing platforms, type of reads, error models, the possibility of introducing coverage bias, the simulation of genomic variants and outputs provided. The decision trees are summarized to help researchers to find out the most suitable tools to analyze the TGS data. Our comprehensive survey and evaluation of computational features of existing methods for TGS may provide a valuable guideline for researchers. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20412649
Volume :
18
Issue :
1
Database :
Academic Search Index
Journal :
Briefings in Functional Genomics
Publication Type :
Academic Journal
Accession number :
134757078
Full Text :
https://doi.org/10.1093/bfgp/ely037