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Record W2949519103 · doi:10.1101/003285

Alignathon: A competitive assessment of whole genome alignment methods

2014· preprint· en· W2949519103 on OpenAlexaff
Dent Earl, Ngan Nguyen, Glenn Hickey, Robert S. Harris, Stephen Fitzgerald, Kathryn Beal, Igor Seledtsov, В. В. Молодцов, Brian J. Raney, Hiram Clawson, Jaebum Kim, Carsten Kemena, Jia‐Ming Chang, Ionas Erb, Alexander Poliakov, Minmei Hou, Javier Herrero, Victor Solovyev, Aaron E. Darling, Jian Ma, Cédric Notredame, Michael Brudno, Inna Dubchak, David Haussler, Benedict Paten

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2014
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsHospital for Sick ChildrenUniversity of Toronto
FundersNational Institutes of HealthNational Human Genome Research InstituteHoward Hughes Medical Institute
KeywordsBenchmarkingBenchmark (surveying)Computer scienceMultiple sequence alignmentVariety (cybernetics)GenomeCode (set theory)Data miningData scienceMachine learningSequence alignmentArtificial intelligenceBiologyGeographyCartographyGenetics

Abstract

fetched live from OpenAlex

Abstract Background Multiple sequence alignments (MSAs) are a prerequisite for a wide variety of evolutionary analyses. Published assessments and benchmark datasets for protein and, to a lesser extent, global nucleotide MSAs are available, but less effort has been made to establish benchmarks in the more general problem of whole genome alignment (WGA). Results Using the same model as the successful Assemblathon competitions, we organized a competitive evaluation in which teams submitted their alignments, and assessments were performed collectively after all the submissions were received. Three datasets were used: two of simulated primate and mammalian phylogenies, and one of 20 real fly genomes. In total 35 submissions were assessed, submitted by ten teams using 12 different alignment pipelines. Conclusions We found agreement between independent simulation-based and statistical assessments, indicating that there are substantial accuracy differences between contemporary alignment tools. We saw considerable difference in the alignment quality of differently annotated regions, and found few tools aligned the duplications analysed. We found many tools worked well at shorter evolutionary distances, but fewer performed competitively at longer distances. We provide all datasets, submissions and assessment programs for further study, and provide, as a resource for future benchmarking, a convenient repository of code and data for reproducing the simulation assessments.

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)0.106
metaresearch head score (Gemma)0.168
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Methods · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.894
Threshold uncertainty score0.563

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.1060.168
Meta-epidemiology (narrow)0.0050.002
Meta-epidemiology (broad)0.0030.004
Bibliometrics0.0090.007
Science and technology studies0.0030.002
Scholarly communication0.0080.006
Open science0.0080.011
Research integrity0.0050.004
Insufficient payload (model declined to judge)0.0090.004

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 head0.014
GPT teacher head0.275
Teacher spread0.261 · 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 designObservational
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

Citations4
Published2014
Admission routes1
Has abstractyes

Explore more

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