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Record W2979820532 · doi:10.1093/bioinformatics/btz744

Soft windowing application to improve analysis of high-throughput phenotyping data

2019· article· en· W2979820532 on OpenAlexaff
Hamed Haselimashhadi, Jeremy Mason, Violeta Muñoz‐Fuentes, Federico López, Kola Babalola, Elif F. Acar, Vivek Kumar, Jacqui White, Ann M. Flenniken, Ruairidh King, Ewan Straiton, John R. Seavitt, Angelina Gaspero, Arturo Garza, Audrey E. Christianson, Chih‐Wei Hsu, Corey Reynolds, Denise G. Lanza, Isabel Lorenzo, Jennie R. Green, Juan Gallegos, Ritu Bohat, Rodney C. Samaco, Surabi Veeraragavan, Jong Kim, Gregor Miller, Helmult Fuchs, Lillian Garrett, Lore Becker, Yeon Kyung Kang, David Clary, Soo Young Cho, Masaru Tamura, Nobuhiko Tanaka, Kyung Dong Soo, Alexandr Bezginov, Ghina Bou About, Marie‐France Champy, Laurent Vasseur, Sophie Leblanc, Hamid Méziane, Mohammed Selloum, Patrick T. Reilly, Nadine Spielmann, Holger Maier, Valérie Gailus‐Durner, Tania Sorg, Hiroshi Masuya, Yuichi Obata, Jason D. Heaney, Mary E. Dickinson, Wurst Wolfgang, Glauco P. Tocchini‐Valentini, K. C. Kent Lloyd, Colin McKerlie, Je Kyung Seong, Yann Hérault, Martin Hrabě de Angelis, Steve D M Brown, Damian Smedley, Paul Flicek, Ann‐Marie Mallon, Helen Parkinson, Terrence F. Meehan

Bibliographic record

VenueBioinformatics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBiomedical Text Mining and Ontologies
Canadian institutionsLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalUniversity of ManitobaToronto Centre for PhenogenomicsHospital for Sick Children
FundersDeutsches Zentrum für DiabetesforschungNational Human Genome Research InstituteNational Institutes of HealthAgence Nationale de la RechercheEuropean Molecular Biology Laboratory
KeywordsComputer scienceThroughputSoftwareData miningComputational biologyProgramming languageBiologyOperating system

Abstract

fetched live from OpenAlex

MOTIVATION: High-throughput phenomic projects generate complex data from small treatment and large control groups that increase the power of the analyses but introduce variation over time. A method is needed to utlize a set of temporally local controls that maximizes analytic power while minimizing noise from unspecified environmental factors. RESULTS: Here we introduce 'soft windowing', a methodological approach that selects a window of time that includes the most appropriate controls for analysis. Using phenotype data from the International Mouse Phenotyping Consortium (IMPC), adaptive windows were applied such that control data collected proximally to mutants were assigned the maximal weight, while data collected earlier or later had less weight. We applied this method to IMPC data and compared the results with those obtained from a standard non-windowed approach. Validation was performed using a resampling approach in which we demonstrate a 10% reduction of false positives from 2.5 million analyses. We applied the method to our production analysis pipeline that establishes genotype-phenotype associations by comparing mutant versus control data. We report an increase of 30% in significant P-values, as well as linkage to 106 versus 99 disease models via phenotype overlap with the soft-windowed and non-windowed approaches, respectively, from a set of 2082 mutant mouse lines. Our method is generalizable and can benefit large-scale human phenomic projects such as the UK Biobank and the All of Us resources. AVAILABILITY AND IMPLEMENTATION: The method is freely available in the R package SmoothWin, available on CRAN http://CRAN.R-project.org/package=SmoothWin. 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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.783
Threshold uncertainty score0.342

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.276
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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designOther design
Domainnot available
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

Citations12
Published2019
Admission routes1
Has abstractyes

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