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Record W2891211505 · doi:10.1182/blood-2018-06-855296

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

2018· review· en· W2891211505 on OpenAlexaff
Amit Sud, Hauke Thomsen, Giulia Orlando, Asta Försti, Philip Law, Peter Broderick, Rosie Cooke, Fadi Hariri, Tomi Pastinen, Douglas F. Easton, Paul D.P. Pharoah, Alison M. Dunning, Julian Peto, Federico Canzian, Rosalind A. Eeles, Zsofia Kote‐Jarai, Kenneth Muir, Nora Pashayan, Daniele Campa, Per Hoffmann, Markus M. Nöthen, Karl‐Heinz Jöckel, Elke Pogge von Strandmann, Anthony J. Swerdlow, Andreas Engert, Kari Hemminki, Richard S. Houlston

Bibliographic record

VenueBlood · 2018
Typereview
Languageen
FieldMedicine
TopicLymphoma Diagnosis and Treatment
Canadian institutionsMcGill University and Génome Québec Innovation CentreMcGill Genome Centre
FundersMedical Research CouncilNational Heart, Lung, and Blood InstituteBlood Cancer UKEuropean CommissionNational Institute for Health and Care ResearchNational Cancer InstituteCancer Research UKWellcome Trust
KeywordsGenome-wide association studyGenetic predispositionBiologyGerminal centerLymphomaGeneticsGenetic associationImmune systemImmunologyGeneCancer researchB cellSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

Abstract To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL risk loci at 6p21.31 (rs649775; P = 2.11 × 10−10), 6q23.3 (rs1002658; P = 2.97 × 10−8), 11q23.1 (rs7111520; P = 1.44 × 10−11), 16p11.2 (rs6565176; P = 4.00 × 10−8), and 20q13.12 (rs2425752; P = 2.01 × 10−8). Integration of gene expression, histone modification, and in situ promoter capture Hi-C data at the 5 new and 13 known risk loci implicates dysfunction of the germinal center reaction, disrupted T-cell differentiation and function, and constitutive NF-κB activation as mechanisms of predisposition. These data provide further insights into the genetic susceptibility and biology of HL.

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)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.036
GPT teacher head0.305
Teacher spread0.269 · 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 designObservational
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

Citations25
Published2018
Admission routes1
Has abstractyes

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