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Record W4399437507 · doi:10.1038/s41592-024-02298-3

Systematic assessment of long-read RNA-seq methods for transcript identification and quantification

2024· article· en· W4399437507 on OpenAlexaff
Francisco J. Pardo-Palacios, Dingjie Wang, Fairlie Reese, Mark Diekhans, Sílvia Carbonell Sala, Brian A. Williams, Jane Loveland, Maite De María, Matthew S. Adams, Gabriela Balderrama-Gutierrez, Amit K. Behera, José M. González, Toby Hunt, Julien Lagarde, Cindy Liang, Haoran Li, Marcus J. Meade, David A. Moraga Amador, Andrey D. Prjibelski, İnanç Birol, Hamed Bostan, Ashley M. Brooks, Muhammed Hasan Çelik, Ying Chen, Mei R. M. Du, Colette Felton, Jonathan Göke, Saber Hafezqorani, Ralf Herwig, Hideya Kawaji, Joseph Lee, Jian‐Liang Li, Matthias Lienhard, Alla Mikheenko, Dennis Mulligan, Ka Ming Nip, Mihaela Pertea, Matthew E. Ritchie, Andre Sim, Alison D. Tang, Yuk Kei Wan, Changqing Wang, Brandon Wong, Chen Yang, If Barnes, Andrew Berry, Salvador Capella-Gutiérrez, Alyssa Cousineau, Namrita Dhillon, José M. Fernández, Luis Ferrández-Peral, Natàlia Garcia-Reyero, Stefan Götz, Carles Hernandéz-Ferrer, Liudmyla Kondratova, Tianyuan Liu, Alessandra Martinez-Martin, Carlos Menor, Jorge Mestre‐Tomás, Jonathan M. Mudge, Nedka G. Panayotova, Alejandro Paniagua, Dmitry Repchevsky, Xingjie Ren, Eric C. Rouchka, Brandon Saint-John, Enrique Sapena, Leon Sheynkman, Melissa Smith, Marie‐Marthe Suner, Hazuki Takahashi, Ingrid Youngworth, Piero Carninci, Nancy D. Denslow, Roderic Guigó, Margaret E. Hunter, René Maehr, Yin Shen, Hagen Tilgner, B Wold, Christopher Vollmers, Adam Frankish, Kin Fai Au, Gloria Sheynkman, A Mortazavi, Ana Conesa, Angela N. Brooks

Bibliographic record

VenueNature Methods · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsCanada's Michael Smith Genome Sciences Centre
FundersNational Institute of Environmental Health SciencesNational Health and Medical Research CouncilNational Institute of General Medical SciencesMinisterio de Ciencia e InnovaciónGeneralitat de CatalunyaBundesministerium für Bildung und ForschungSaint Petersburg State UniversityMinistry of Education, Culture, Sports, Science and TechnologyCentres de Recerca de CatalunyaNational Human Genome Research InstituteWellcome TrustRIKENJapan Agency for Medical Research and DevelopmentNational Institutes of HealthPew Charitable TrustsU.S. Department of Health and Human ServicesOhio State UniversitySilicon Valley Community FoundationEuropean Molecular Biology LaboratoryWellcomeAmerican Concrete Institute Foundation
KeywordsComputational biologyAnnotationBenchmark (surveying)ReplicateIdentification (biology)Computer scienceTranscriptomeGenomeRNA-SeqDNA sequencingBiologyNanopore sequencingReference genomeBioinformaticsGeneGeneticsGene expression

Abstract

fetched live from OpenAlex

The Long-read RNA-Seq Genome Annotation Assessment Project Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. Using different protocols and sequencing platforms, the consortium generated over 427 million long-read sequences from complementary DNA and direct RNA datasets, encompassing human, mouse and manatee species. Developers utilized these data to address challenges in transcript isoform detection, quantification and de novo transcript detection. The study revealed that libraries with longer, more accurate sequences produce more accurate transcripts than those with increased read depth, whereas greater read depth improved quantification accuracy. In well-annotated genomes, tools based on reference sequences demonstrated the best performance. Incorporating additional orthogonal data and replicate samples is advised when aiming to detect rare and novel transcripts or using reference-free approaches. This collaborative study offers a benchmark for current practices and provides direction for future method development in transcriptome analysis.

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)0.056
metaresearch head score (Gemma)0.035
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Methods · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.944
Threshold uncertainty score0.295

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0560.035
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0030.002
Science and technology studies0.0010.001
Scholarly communication0.0040.002
Open science0.0020.003
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0010.001

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 head0.028
GPT teacher head0.445
Teacher spread0.417 · 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.

Study designBench or experimental
DomainMethods
GenreEmpirical

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

Citations208
Published2024
Admission routes1
Has abstractyes

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