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Record W2950052683 · doi:10.1101/221127

glactools: a command-line toolset for the management of genotype likelihoods and allele counts

2017· preprint· en· W2950052683 on OpenAlexfundno aff
Gabriel Renaud

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2017
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGene expression and cancer classification
Canadian institutionsnot available
FundersNatural Sciences and Engineering Research Council of CanadaMax-Planck-Gesellschaft
KeywordsComputer sciencePopulationBespokeWorkflowSet (abstract data type)GenotypingScripting languageAllele frequencyGenotypeProgramming languageDatabaseBiologyGenetics

Abstract

fetched live from OpenAlex

Abstract Motivation Research projects involving population genomics routinely need to store genotyping information, population allele frequencies, combine files from different samples, query the data and export it to various formats. This is often done using bespoke in-house scripts which cannot be easily adapted to new projects and seldom constitute reproducible workflows. Results We introduce glactools, a set of command-line utilities which can import data from genotypes or population-wide allele frequencies into an intermediate representation, compute various operations on it and export the data to several file formats used by population genetics software. This intermediate format can take 2 forms, one to store per-individual genotype likelihoods and a second for allele counts from one or more individuals. glactools allows users to perform operations such as intersecting datasets, merging individuals into populations, creating subsets, perform queries (e.g. return sites where a given population does not share an allele with a second one) and compute summary statistics to answer biologically relevant questions. Availability glactools is freely available for use under the GPL. It requires a C++ compiler and the htslib library. ( https://grenaud.github.io/glactools/ ). Contact gabriel.reno@gmail.com Supplementary information Supplementary methods and results 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)0.008
metaresearch head score (Gemma)0.023
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: Not applicable
GenreCandidate signal: Software · Consensus signal: Software
Teacher disagreement score0.132
Threshold uncertainty score0.443

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.023
Meta-epidemiology (narrow)0.0060.003
Meta-epidemiology (broad)0.0030.004
Bibliometrics0.0060.004
Science and technology studies0.0020.002
Scholarly communication0.0050.004
Open science0.0080.006
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.1320.101

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 head0.024
GPT teacher head0.266
Teacher spread0.243 · 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
GenreSoftware

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

Citations0
Published2017
Admission routes1
Has abstractyes

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