Evidence map›Paper›PMID 38692839›Full record

ArticleGenome research2024

Simulation of nanopore sequencing signal data with tunable parameters.

Hasindu Gamaarachchi, James M Ferguson, Hiruna Samarakoon, Kisaru Liyanage, Ira W Deveson

Abstract read
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Hasindu GamaarachchiSchool of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia; hasindu@garvan.org.au i.deveson@garvan.org.au.
James M FergusonGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.ORCID 0000-0002-6192-6937
Hiruna SamarakoonSchool of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia.
Kisaru LiyanageSchool of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia.
Ira W DevesonGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia; hasindu@garvan.org.au i.deveson@garvan.org.au.ORCID 0000-0003-3861-0472

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In silico simulation of high-throughput sequencing data is a technique used widely in the genomics field. However, there is currently a lack of effective tools for creating simulated data from nanopore sequencing devices, which measure DNA or RNA molecules in the form of time-series current signal data. Here, we introduce Squigulator, a fast and simple tool for simulation of realistic nanopore signal data. Squigulator takes a reference genome, a transcriptome, or read sequences, and generates corresponding raw nanopore signal data. This is compatible with basecalling software from Oxford Nanopore Technologies (ONT) and other third-party tools, thereby providing a useful substrate for development, testing, debugging, validation, and optimization at every stage of a nanopore analysis workflow. The user may generate data with preset parameters emulating specific ONT protocols or noise-free "ideal" data, or they may deterministically modify a range of experimental variables and/or noise parameters to shape the data to their needs. We present a brief example of Squigulator's use, creating simulated data to model the degree to which different parameters impact the accuracy of ONT basecalling and downstream variant detection. This analysis reveals new insights into the nature of ONT data and basecalling algorithms. We provide Squigulator as an open-source tool for the nanopore community.

Indexed as

Nanopore SequencingSoftwareAlgorithmsComputer SimulationGenomicsHigh-Throughput Nucleotide SequencingHumansNanoporesSequence Analysis, DNA

Identifiers

PMID38692839
PMCPMC11216307

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.