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Record W2767132092 · doi:10.1093/bioinformatics/btx675

ARCS: scaffolding genome drafts with linked reads

2017· article· en· W2767132092 on OpenAlexfundno aff
Sarah Yeo, Lauren Coombe, René L. Warren, Justin Chu, İnanç Birol

Bibliographic record

VenueBioinformatics · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsnot available
FundersNational Human Genome Research InstituteNational Institutes of HealthGenome British ColumbiaGenome Canada
KeywordsComputer scienceGenomeScaffoldComputational biologyProgramming languageBiologyGeneticsGene

Abstract

fetched live from OpenAlex

Motivation: Sequencing of human genomes is now routine, and assembly of shotgun reads is increasingly feasible. However, assemblies often fail to inform about chromosome-scale structure due to a lack of linkage information over long stretches of DNA-a shortcoming that is being addressed by new sequencing protocols, such as the GemCode and Chromium linked reads from 10 × Genomics. Results: Here, we present ARCS, an application that utilizes the barcoding information contained in linked reads to further organize draft genomes into highly contiguous assemblies. We show how the contiguity of an ABySS H.sapiens genome assembly can be increased over six-fold, using moderate coverage (25-fold) Chromium data. We expect ARCS to have broad utility in harnessing the barcoding information contained in linked read data for connecting high-quality sequences in genome assembly drafts. Availability and implementation: https://github.com/bcgsc/ARCS/. Contact: rwarren@bcgsc.ca. Supplementary information: Supplementary data are available at Bioinformatics online.

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)0.008
metaresearch head score (Gemma)0.033
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: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.052
Threshold uncertainty score0.172

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.033
Meta-epidemiology (narrow)0.0040.003
Meta-epidemiology (broad)0.0010.003
Bibliometrics0.0050.006
Science and technology studies0.0020.001
Scholarly communication0.0040.003
Open science0.0040.005
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.0520.040

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 head0.016
GPT teacher head0.240
Teacher spread0.224 · 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

Citations234
Published2017
Admission routes1
Has abstractyes

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