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Record W3123914750 · doi:10.21203/rs.3.rs-95704/v2

SnpRecode: A Versatile and Fast Genotype Recoding and Correlation Function

2021· preprint· en· W3123914750 on OpenAlexafffund
Andrew Marete, Nathalie Bissonnette

Bibliographic record

VenueResearch Square (Research Square) · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Mapping and Diversity in Plants and Animals
Canadian institutionsAgriculture and Agri-Food Canada
FundersAgriculture and Agri-Food Canada
KeywordsPython (programming language)Imputation (statistics)Computer scienceSoftwareGenotypeResidualData miningProgramming languageBiologyMissing dataAlgorithmMachine learningGenetics

Abstract

fetched live from OpenAlex

Abstract Genotype imputation is an essential tool used in genomic selection in plants and animals. A popular imputation tool used in animal genomics is FImpute. FImpute, however, accepts a specific genotype format and produces dosages whose conversion to VCF or Plink format requires multiple software packages in a pipeline with a large amount of processing time. We have developed SnpRecode as a helper tool that bridges the gap between regular genotype files and the FImpute imputation software by allowing for fast and seamless conversion of genotypes to-and-from FImpute format. SnpRecode also implements a fast genotype correlation function to estimate and plot the imputation accuracy. We run tests on 6,000 samples with a step of 1,000 to determine the performance of SnpRecode on various sample sizes and runtime and memory usage used as performance measures. The performance of SnpRecode was modest at 10sec/1,000 samples. Written in Python programming language, SnpRecode provides users with great flexibility in implementation with other software packages in a pipeline.

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)0.004
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.356
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.003
Research integrity0.0010.002
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 head0.081
GPT teacher head0.360
Teacher spread0.280 · 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.

Study designNot applicable
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

Citations0
Published2021
Admission routes2
Has abstractyes

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