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Record W4396678436 · doi:10.1093/nar/gkae331

Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers

2024· article· en· W4396678436 on OpenAlexaff
Lukas Forer, Daniel Taliun, Jonathon LeFaive, Albert V. Smith, Andrew P. Boughton, Stefan Coassin, Claudia Lamina, Florian Kronenberg, Christian Fuchsberger, Sebastian Schönherr

Bibliographic record

VenueNucleic Acids Research · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University
FundersUniversität InnsbruckMedizinische Universität Innsbruck
KeywordsImputation (statistics)Population stratificationBiologyTraitComputer sciencePopulationWeb serverStatisticsMissing dataGenotypeGeneticsThe InternetMachine learningSingle-nucleotide polymorphismWorld Wide WebDemographyGeneMathematics

Abstract

fetched live from OpenAlex

Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele dosages for genetic variants associated with the trait or disease in question. Present approaches for calculating PGS from genotypes are often inefficient and labor-intensive, limiting transferability into clinical applications. Here, we present 'Imputation Server PGS', an extension of the Michigan Imputation Server designed to automate a standardized calculation of polygenic scores based on imputed genotypes. This extends the widely used Michigan Imputation Server with new functionality, bringing the simplicity and efficiency of modern imputation to the PGS field. The service currently supports over 4489 published polygenic scores from publicly available repositories and provides extensive quality control, including ancestry estimation to report population stratification. An interactive report empowers users to screen and compare thousands of scores in a fast and intuitive way. Imputation Server PGS provides a user-friendly web service, facilitating the application of polygenic scores to a wide range of genetic studies and is freely available at https://imputationserver.sph.umich.edu.

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)0.030
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.038
Threshold uncertainty score0.127

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.030
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0030.005
Science and technology studies0.0010.001
Scholarly communication0.0040.003
Open science0.0050.005
Research integrity0.0010.003
Insufficient payload (model declined to judge)0.0380.039

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 head0.036
GPT teacher head0.373
Teacher spread0.337 · 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 designSimulation or modeling
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

Citations12
Published2024
Admission routes1
Has abstractyes

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