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Record W2135361281 · doi:10.1101/gr.126599.111

Assemblathon 1: A competitive assessment of de novo short read assembly methods

2011· article· en· W2135361281 on OpenAlexaff
Dent Earl, Keith Bradnam, John St. John, Aaron E. Darling, Dawei Lin, Joseph Fass, Hung On Ken Yu, Vince Buffalo, Daniel R. Zerbino, Mark Diekhans, Ngan Nguyen, Pramila Ariyaratne, Wing‐Kin Sung, Zemin Ning, Matthias Haimel, Jared T. Simpson, Nuno A. Fonseca, İnanç Birol, Roderick Docking, Isaac Ho, Daniel S. Rokhsar, Rayan Chikhi, Dominique Lavenier, Guillaume Chapuis, Delphine Naquin, Nicolas Maillet, Michael C. Schatz, David R. Kelley, Adam M. Phillippy, Sergey Koren, Shiaw‐Pyng Yang, Wei Wu, Wen‐Chi Chou, Anuj Srivastava, Timothy I. Shaw, J. Graham Ruby, Peter Skewes-Cox, Miguel Betegon, Michelle Dimon, Victor Solovyev, Igor Seledtsov, Petr Kosarev, Denis Vorobyev, Ricardo H. Ramírez-González, Richard M. Leggett, Dan MacLean, Fangfang Xia, Ruibang Luo, Zhenyu Li, Yinlong Xie, Binghang Liu, Sante Gnerre, Iain MacCallum, Dariusz Przybylski, Filipe J. Ribeiro, Shuangye Yin, Ted Sharpe, Giles Hall, Paul Kersey, Richard Durbin, Shaun D. Jackman, Jarrod Chapman, Xiaoqiu Huang, Joseph L. DeRisi, Mario Cáccamo, Yingrui Li, David B. Jaffe, Richard E. Green, David Haussler, Ian Korf, Benedict Paten

Bibliographic record

VenueGenome Research · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Phylogenetic Studies
Canadian institutionsBC Cancer Agency
FundersNational Human Genome Research InstituteNational Institute on Alcohol Abuse and AlcoholismNational Key Research and Development Program of ChinaNational High-tech Research and Development ProgramNational Natural Science Foundation of ChinaDivision of Emerging FrontiersEuropean Bioinformatics InstituteHoward Hughes Medical InstituteNational Cancer InstituteNational Institutes of HealthNational Science Foundation
KeywordsBiologySequence assemblyBenchmark (surveying)GenomeComputational biologyGenomicsContiguityHybrid genome assemblySet (abstract data type)Computer scienceGeneticsGeneTranscriptome

Abstract

fetched live from OpenAlex

Low-cost short read sequencing technology has revolutionized genomics, though it is only just becoming practical for the high-quality de novo assembly of a novel large genome. We describe the Assemblathon 1 competition, which aimed to comprehensively assess the state of the art in de novo assembly methods when applied to current sequencing technologies. In a collaborative effort, teams were asked to assemble a simulated Illumina HiSeq data set of an unknown, simulated diploid genome. A total of 41 assemblies from 17 different groups were received. Novel haplotype aware assessments of coverage, contiguity, structure, base calling, and copy number were made. We establish that within this benchmark: (1) It is possible to assemble the genome to a high level of coverage and accuracy, and that (2) large differences exist between the assemblies, suggesting room for further improvements in current methods. The simulated benchmark, including the correct answer, the assemblies, and the code that was used to evaluate the assemblies is now public and freely available from http://www.assemblathon.org/.

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)0.070
metaresearch head score (Gemma)0.093
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: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.930
Threshold uncertainty score0.372

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0700.093
Meta-epidemiology (narrow)0.0040.002
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0060.006
Science and technology studies0.0040.002
Scholarly communication0.0070.006
Open science0.0070.008
Research integrity0.0050.004
Insufficient payload (model declined to judge)0.0070.003

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 head0.160
GPT teacher head0.461
Teacher spread0.301 · 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

Citations539
Published2011
Admission routes1
Has abstractyes

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