2020
DOI: 10.1186/s13059-020-1935-5
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Opportunities and challenges in long-read sequencing data analysis

Abstract: Long-read sequencing technologies are overcoming early limitations in accuracy and throughput, broadening their application domains in genomics. Dedicated analysis tools that take into account the characteristics of long-read data are thus required, but the fast pace of development of such tools can be overwhelming. To assist in the design and analysis of long-read sequencing projects, we review the current landscape of available tools and present an online interactive database, long-read-tools.org, to facilit… Show more

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Cited by 1,799 publications
(930 citation statements)
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References 161 publications
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“…1B, grey end of the genome ( Fig. 2A) which is commonly reported for cDNA libraries (34,35). Basic variant detection was used to identify possible single and multiple nucleotide changes and deletions in the sequences encoding the S1/S2 region of the S protein ( Fig.…”
Section: Virus Passage and Characterizationmentioning
confidence: 99%
“…1B, grey end of the genome ( Fig. 2A) which is commonly reported for cDNA libraries (34,35). Basic variant detection was used to identify possible single and multiple nucleotide changes and deletions in the sequences encoding the S1/S2 region of the S protein ( Fig.…”
Section: Virus Passage and Characterizationmentioning
confidence: 99%
“…In addition to resolving haplotypes, the generation of chromosome-level assemblies, which are necessary to understand the full complexity of genomic differences including all kinds of structural rearrangements, is similarly challenging 12,13 . While recent improvements in long DNA molecule sequencing 14 promise the assembly of telomere-to-telomere contigs, genetic maps can reliably help to resolve mis-assemblies as well as guide chromosome-level scaffolding. The generation of genetic maps, however, relies on a substantial amount of meiotic recombination which usually implies the genotyping of hundreds of recombinant genomes.…”
mentioning
confidence: 99%
“…In comparison to single amplicon deep sequencing, WGS involves markedly more data processing procedures, such as de novo assembly and alignment within existing genome databases, but it can deliver a more complete view of the heterogeneity within viral populations, which is particularly important for the identification of novel viruses (Goodwin et al, 2016;Marston et al, 2013). Long-read sequencing has the advantage of directly obtaining information in repetitive sequences with a single read and consequently eliminating ambiguous information in those repetitive regions, but it still suffers from relatively high error rates (Amarasinghe et al, 2020). A high coverage could significantly reduce the error rates, but that entails a higher cost, relatively more computational power and longer times for analysis.…”
Section: Approaches For Enhancing the Accuracy Of Ngs In Virus Quasismentioning
confidence: 99%