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Record W2091230935 · doi:10.1002/humu.22008

HGV2011: Personalized genomic medicine meets the incidentalome

2011· article· en· W2091230935 on OpenAlexafffund
Anthony J. Brookes, Stephen J. Chanock, Vivian G. Cheung, David B. Goldstein, Jin Li, Pui–Yan Kwok

Bibliographic record

VenueHuman Mutation · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsSickKids FoundationHospital for Sick Children
FundersNational Cancer InstituteNational Human Genome Research InstituteUniversity of TorontoUniversity of LeicesterDNA Genotek
KeywordsHumBiologyHuman genomeHuman genetic variationPersonal genomicsGenome-wide association studyPersonalized medicineVariation (astronomy)Computational biologyPrecision medicineGenomeData scienceWhole genome sequencingGenomicsGeneticsSingle-nucleotide polymorphismGeneComputer science

Abstract

fetched live from OpenAlex

The 12th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2011: Berkeley, California, USA, 8th-10th September 2011) was a stimulating workshop where researchers from academia and industry explored the latest progress, challenges, and opportunities in genome variation research. Key themes included progress beyond GWAS, variation in human populations, use of sequence data in medical settings, large-scale sequencing data analysis, and bioinformatics approaches to large datasets.

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)0.013
metaresearch head score (Gemma)0.027
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: Commentary · Consensus signal: Commentary
Teacher disagreement score0.029
Threshold uncertainty score0.096

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0130.027
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0040.004
Open science0.0030.006
Research integrity0.0070.004
Insufficient payload (model declined to judge)0.0290.007

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 head0.032
GPT teacher head0.252
Teacher spread0.219 · 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
GenreCommentary

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

Citations1
Published2011
Admission routes2
Has abstractyes

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