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Record W4393237405 · doi:10.1101/2024.03.21.586080

Assembly Arena: Benchmarking RNA isoform reconstruction algorithms for nanopore sequencing

2024· preprint· en· W4393237405 on OpenAlexafffund
Mélanie Sagniez, Anshul Budhraja, Bastien Paré, Shawn M. Simpson, Clément Vinet-Ouellette, Marieke Rozendaal, Martin A. Smith

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2024
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsUniversité de MontréalCegep Edouard MontpetitCentre Hospitalier Universitaire Sainte-Justine
FundersAlliance de recherche numérique du CanadaOxford Nanopore Technologies
KeywordsNanopore sequencingBenchmarkingRNA splicingComputational biologyPipeline (software)Identification (biology)TranscriptomeRNAComputer scienceAlternative splicingDeep sequencingRNA-SeqExonBiologyDNA sequencingData scienceGenomeGeneGeneticsGene expression

Abstract

fetched live from OpenAlex

Abstract Resolving the transcriptomes of higher eukaryotes is more tangible with the advent of long read sequencing, which greatly facilitates the identification of new transcripts and their splicing isoforms. However, the computational analysis of long read RNA sequencing data remains challenging as it is difficult to disentangle technical artifacts from bona fide biological information. To address this, we evaluated the performance of multiple leading transcriptome assembly algorithms on their ability to accurately reconstruct RNA transcript isoforms. We specifically focused on deep nanopore sequencing of synthetic RNA spike-in controls (Sequins™ and SIRVs) across different chemistries, including cDNA and direct RNA protocols. Our systematic comparative benchmarking exposes the strengths and limitations of the different surveyed strategies. We also highlight conceptual and technical challenges with the annotation of transcriptomes and the formalization of assembly quality metrics. Our results complement similar recent endeavors, helping forge a path towards a gold standard analytical pipeline for long read transcriptome assembly.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.010
metaresearch head score (Gemma)0.013
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: Simulation or modeling
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.010
Threshold uncertainty score0.055

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0100.013
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0010.002
Science and technology studies0.0010.001
Scholarly communication0.0030.002
Open science0.0030.002
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0020.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.018
GPT teacher head0.232
Teacher spread0.214 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
Domainnot available
GenreMethods

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations5
Published2024
Admission routes2
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenomics and Phylogenetic Studies→French-language works237,207→