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Record W2112861424 · doi:10.1093/bioinformatics/btt744

ALEA: a toolbox for allele-specific epigenomics analysis

2013· article· en· W2112861424 on OpenAlexafffund
Hamid Younesy, Torsten Möller, Alireza Heravi‐Moussavi, Jeffrey B. Cheng, J Costello, Matthew C. Lorincz, Mohammad M. Karimi, Steven J.M. Jones

Bibliographic record

VenueBioinformatics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsCanada's Michael Smith Genome Sciences CentreSimon Fraser UniversityUniversity of British ColumbiaBC Cancer Agency
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchGenome British ColumbiaDermatology Foundation
KeywordsEpigenomicsPipeline (software)Genome browserAlleleComputational biologyIdentification (biology)BiologyComputer scienceGeneticsGenomicsGenomeGeneDNA methylationGene expressionProgramming language

Abstract

fetched live from OpenAlex

The assessment of expression and epigenomic status using sequencing based methods provides an unprecedented opportunity to identify and correlate allelic differences with epigenomic status. We present ALEA, a computational toolbox for allele-specific epigenomics analysis, which incorporates allelic variation data within existing resources, allowing for the identification of significant associations between epigenetic modifications and specific allelic variants in human and mouse cells. ALEA provides a customizable pipeline of command line tools for allele-specific analysis of next-generation sequencing data (ChIP-seq, RNA-seq, etc.) that takes the raw sequencing data and produces separate allelic tracks ready to be viewed on genome browsers. The pipeline has been validated using human and hybrid mouse ChIP-seq and RNA-seq data. AVAILABILITY: The package, test data and usage instructions are available online at http://www.bcgsc.ca/platform/bioinfo/software/alea CONTACT: : mkarimi1@interchange.ubc.ca or sjones@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)0.004
metaresearch head score (Gemma)0.007
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.047
Threshold uncertainty score0.156

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.007
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0020.003
Bibliometrics0.0030.002
Science and technology studies0.0010.001
Scholarly communication0.0030.002
Open science0.0040.003
Research integrity0.0010.003
Insufficient payload (model declined to judge)0.0470.024

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 head0.015
GPT teacher head0.240
Teacher spread0.225 · 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 designBench or experimental
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

Citations23
Published2013
Admission routes2
Has abstractyes

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