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Record W3120169873 · doi:10.1016/j.tig.2020.12.002

The genome atlas: navigating a new era of reference genomes

2021· review· en· W3120169873 on OpenAlexafffund
Alice M. Kaye, Wyeth W. Wasserman

Bibliographic record

VenueTrends in Genetics · 2021
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsBC Children's HospitalUniversity of British Columbia
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchGenome Canada
KeywordsReference genomeGenomeGenomicsBiologyComparative genomicsComputational biologyComputer scienceData scienceGeneticsGene

Abstract

fetched live from OpenAlex

The reference genome serves two distinct purposes within the field of genomics. First, it provides a persistent structure against which findings can be reported, allowing for universal knowledge exchange between users. Second, it reduces the computational costs and time required to process genomic data by creating a scaffold that can be relied upon by analysis software. Here, we posit that current efforts to extend the linear reference to a graph-based structure while trying to fulfil both of these purposes concurrently will face a trade-off between comprehensiveness and computational efficiency. In this article, we explore how the reference genome is used and suggest an alternative structure, The Genome Atlas (TGA), to fulfil the bipartite role of the reference genome.

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)0.020
metaresearch head score (Gemma)0.053
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 score0.020
Threshold uncertainty score0.106

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0200.053
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0090.010
Science and technology studies0.0020.003
Scholarly communication0.0090.013
Open science0.0050.010
Research integrity0.0030.006
Insufficient payload (model declined to judge)0.0080.004

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 head0.058
GPT teacher head0.348
Teacher spread0.290 · 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

Citations25
Published2021
Admission routes2
Has abstractyes

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