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Record W4292110701 · doi:10.1016/j.ajhg.2022.07.012

Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing

2022· article· en· W4292110701 on OpenAlexaff
Sarah C. Hanks, Lukas Forer, Sebastian Schönherr, Jonathon LeFaive, Taylor Martins, Ryan Welch, Sarah A. Gagliano Taliun, David Braff, Jill M. Johnsen, Eimear E. Kenny, Barbara A. Konkle, Markku Laakso, Ruth F.J. Loos, Steven A. McCarroll, Carlos N. Pato, Michele T. Pato, Albert V. Smith, Michael Boehnke, Laura J. Scott, Christian Fuchsberger

Bibliographic record

VenueThe American Journal of Human Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de MontréalMontreal Heart Institute
FundersNational Human Genome Research InstituteNational Institute of Mental Health
KeywordsImputation (statistics)GenotypingGenetics1000 Genomes ProjectBiologySingle-nucleotide polymorphismIndelMinor allele frequencyGenotypeGenome-wide association studySNP genotypingSNPComputational biologyAllele frequencyWhole genome sequencingGenomeStatisticsMissing dataGeneMathematics

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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)0.056
metaresearch head score (Gemma)0.154
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: Empirical · Consensus signal: none
Teacher disagreement score0.056
Threshold uncertainty score0.299

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0560.154
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0010.003
Science and technology studies0.0010.002
Scholarly communication0.0060.006
Open science0.0020.004
Research integrity0.0030.002
Insufficient payload (model declined to judge)0.0040.002

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 head0.020
GPT teacher head0.274
Teacher spread0.254 · 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
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

Citations31
Published2022
Admission routes1
Has abstractno

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