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Record W2417935541 · doi:10.3899/jrheum.160424

Prospecting for Precision: Promises for Personalized Medicine

2016· letter· en· W2417935541 on OpenAlexvenueno aff
Robert P. Kimberly

Bibliographic record

VenueThe Journal of Rheumatology · 2016
Typeletter
Languageen
FieldMedicine
TopicSystemic Lupus Erythematosus Research
Canadian institutionsnot available
Fundersnot available
KeywordsSingle-nucleotide polymorphismMedicinePersonalized medicineSNPLupus nephritisGeneticsHuman genomeGenome-wide association studyGenomeComputational biologyBioinformaticsGeneGenotypeBiologyDiseaseInternal medicine

Abstract

fetched live from OpenAlex

In this issue of The Journal , co–first authors Kim, Bang, and colleagues present provocative data suggesting an association with the clinical response to cyclophosphamide (CYC) therapy in patients with active lupus nephritis: whether administered according to the US National Institutes of Health (NIH) regimen of monthly intravenous doses or according to the Euro-Lupus biweekly schedule, response to CYC is associated with single-nucleotide polymorphism (SNP) in the telomeric end of the FCGR gene cluster adjacent to FCGR2B on chromosome 1q231. The FCGR2B gene encodes the cell surface receptor, FcγRIIb (CD32B), which is the only Fcγ receptor with a tyrosine-based inhibitory motif in the human genome. The prospect of genetically based personalized, precision medicine coming to rheumatologic conditions apart from certain autoinflammatory and rare disease states2 and specific considerations in pharmacogenomics3 is very appealing and holds high promise for the future. The reasonable question is whether we have arrived or have more to do. The study by Kim and Bang’s group defines complete, partial, and non-responsiveness to CYC and relates these clinical categories to nearly 500,000 SNP in germline DNA obtained in a genome-wide association study. The technology is powerful and continues to advance with more densely featured SNP genotyping arrays and even with whole-genome sequencing, which is now both technically and financially within reach. Thus, the … Address correspondence to Dr. R.P. Kimberly; E-mail: rpk{at}uab.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)0.013
metaresearch head score (Gemma)0.031
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 score0.017
Threshold uncertainty score0.069

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0130.031
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0020.001
Science and technology studies0.0030.007
Scholarly communication0.0130.012
Open science0.0030.004
Research integrity0.0110.022
Insufficient payload (model declined to judge)0.0170.010

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 head0.054
GPT teacher head0.353
Teacher spread0.299 · 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
Published2016
Admission routes1
Has abstractyes

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