Evidence map›Paper›PMID 28969586›Full record

ArticleBMC bioinformatics2017

SimBA: A methodology and tools for evaluating the performance of RNA-Seq bioinformatic pipelines.

Jérôme Audoux, Mikaël Salson, Christophe F Grosset, Sacha Beaumeunier, Jean-Marc Holder, Thérèse Commes, Nicolas Philippe

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Article in BMC bioinformatics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

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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

6 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

7 authors.

Jérôme AudouxSeqOne, IRMB, CHRU de Montpellier -Hopital St Eloi, 80 avenue Augustin Fliche, Montpellier, 34295, France.
Mikaël SalsonUniversity Lille, CNRS, Centrale Lille, Inria, UMR 9189 - CRIStAL - Centre de Recherche en Informatique Signal et Automatique de Lille, Lille, F-59000, France.
Christophe F GrossetUniversity Bordeaux, Inserm, BMGIC, U1035, Bordeaux, 33076, France.
Sacha BeaumeunierSeqOne, IRMB, CHRU de Montpellier -Hopital St Eloi, 80 avenue Augustin Fliche, Montpellier, 34295, France.
Jean-Marc HolderSeqOne, IRMB, CHRU de Montpellier -Hopital St Eloi, 80 avenue Augustin Fliche, Montpellier, 34295, France.
Thérèse CommesSeqOne, IRMB, CHRU de Montpellier -Hopital St Eloi, 80 avenue Augustin Fliche, Montpellier, 34295, France.
Nicolas PhilippeSeqOne, IRMB, CHRU de Montpellier -Hopital St Eloi, 80 avenue Augustin Fliche, Montpellier, 34295, France. nphilippe.research@gmail.com.ORCID http://orcid.org/0000-0002-4939-0084

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe evolution of next-generation sequencing (NGS) technologies has led to increased focus on RNA-Seq. Many bioinformatic tools have been developed for RNA-Seq analysis, each with unique performance characteristics and configuration parameters. Users face an increasingly complex task in understanding which bioinformatic tools are best for their specific needs and how they should be configured. In order to provide some answers to these questions, we investigate the performance of leading bioinformatic tools designed for RNA-Seq analysis and propose a methodology for systematic evaluation and comparison of performance to help users make well informed choices.

resultsTo evaluate RNA-Seq pipelines, we developed a suite of two benchmarking tools. SimCT generates simulated datasets that get as close as possible to specific real biological conditions accompanied by the list of genomic incidents and mutations that have been inserted. BenchCT then compares the output of any bioinformatics pipeline that has been run against a SimCT dataset with the simulated genomic and transcriptional variations it contains to give an accurate performance evaluation in addressing specific biological question. We used these tools to simulate a real-world genomic medicine question s involving the comparison of healthy and cancerous cells. Results revealed that performance in addressing a particular biological context varied significantly depending on the choice of tools and settings used. We also found that by combining the output of certain pipelines, substantial performance improvements could be achieved.

conclusionOur research emphasizes the importance of selecting and configuring bioinformatic tools for the specific biological question being investigated to obtain optimal results. Pipeline designers, developers and users should include benchmarking in the context of their biological question as part of their design and quality control process. Our SimBA suite of benchmarking tools provides a reliable basis for comparing the performance of RNA-Seq bioinformatics pipelines in addressing a specific biological question. We would like to see the creation of a reference corpus of data-sets that would allow accurate comparison between benchmarks performed by different groups and the publication of more benchmarks based on this public corpus. SimBA software and data-set are available at http://cractools.gforge.inria.fr/softwares/simba/ .

Indexed as

Computer SimulationSoftwareComputational BiologyGene FusionGenome, HumanHigh-Throughput Nucleotide SequencingHumansINDEL MutationPolymorphism, Single NucleotideSequence Analysis, RNABenchmarkPipeline optimizationRNA-SeqTranscriptomics

Identifiers

PMID28969586
PMCPMC5623974

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

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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.