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Record W3034853486 · doi:10.1016/j.csbj.2020.06.014

Handling multi-mapped reads in RNA-seq

2020· review· en· W3034853486 on OpenAlexafffund
Gabrielle Deschamps-Francoeur, Joël Simoneau, Michelle S. Scott

Bibliographic record

VenueComputational and Structural Biotechnology Journal · 2020
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsUniversité de Sherbrooke
FundersFonds de recherche du Québec – Nature et technologiesFonds de Recherche du Québec - SantéNatural Sciences and Engineering Research Council of Canada
KeywordsGeneGene duplicationBiologyGeneticsGenomeComputational biologySequence (biology)Locus (genetics)RNATransposition (logic)Computer science

Abstract

fetched live from OpenAlex

Many eukaryotic genomes harbour large numbers of duplicated sequences, of diverse biotypes, resulting from several mechanisms including recombination, whole genome duplication and retro-transposition. Such repeated sequences complicate gene/transcript quantification during RNA-seq analysis due to reads mapping to more than one locus, sometimes involving genes embedded in other genes. Genes of different biotypes have dissimilar levels of sequence duplication, with long-noncoding RNAs and messenger RNAs sharing less sequence similarity to other genes than biotypes encoding shorter RNAs. Many strategies have been elaborated to handle these multi-mapped reads, resulting in increased accuracy in gene/transcript quantification, although separate tools are typically used to estimate the abundance of short and long genes due to their dissimilar characteristics. This review discusses the mechanisms leading to sequence duplication, the biotypes affected, the computational strategies employed to deal with multi-mapped reads and the challenges that still remain to be overcome.

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)0.005
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.005
Threshold uncertainty score0.025

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.004
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0020.003
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0030.002
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0030.003

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 head0.301
Teacher spread0.272 · 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 designNot applicable
Domainnot available
GenreReview

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

Citations99
Published2020
Admission routes2
Has abstractyes

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