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Using a Genome-Wide Scan and Meta-analysis to Identify a Novel IBD Locus and Confirm Previously Identified IBD Loci

2002· review· en· W1999626604 on OpenAlexaffabout
Caitlin Williams, Kerry Kocher, Eric S. Lander, Mark J. Daly, John D. Rioux

Bibliographic record

VenueInflammatory Bowel Diseases · 2002
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicInflammatory Bowel Disease
Canadian institutionsQueen Elizabeth II Health Sciences Centre
Fundersnot available
KeywordsLocus (genetics)Meta-analysisComputational biologyGenome ScanGeneticsGenome-wide association studyGenomeBiologyMedicineGeneInternal medicineSingle-nucleotide polymorphismAlleleGenotypeMicrosatellite

Abstract

fetched live from OpenAlex

Seven loci that potentially confer susceptibility to inflammatory bowel disease (IBD) or one of its subtypes have been identified to date; however, most are unconfirmed, and the complete set of loci contributing to disease susceptibility has not yet been determined. The authors aim to identify loci contributing to disease susceptibility in an IBD population from Canada and to compare their results in a systematic manner with those of previously published IBD data sets. The authors performed genome-wide linkage analysis on 63 IBD families from Nova Scotia, Canada. They then undertook a meta-analysis to combine the results of their study with those of the four previously published IBD genome-wide scans with complete data reported. Their genome-wide scan identified three regions of suggestive linkage to IBD: 11p, and The locus on chromosome 11p has not been previously reported. Meta-analysis of multiple scans revealed linked regions corresponding to the, and loci. Meta-analysis of linkage data is a powerful approach for identifying and confirming common susceptibility loci and specifically shows that, and are the major, common IBD susceptibility loci in the populations studied thus far.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesMeta-epidemiology (narrow)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.390
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.000
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 head0.063
GPT teacher head0.330
Teacher spread0.267 · 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; both teacher heads agree on what is shown here.

Study designMeta-analysis
Domainnot available
GenreReview

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

Citations64
Published2002
Admission routes2
Has abstractyes

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