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Record W2970001915 · doi:10.1038/s41467-019-11881-8

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

2019· review· en· W2970001915 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

fundA Canadian funder is recorded on the work.
no affNo Canadian affiliation: this work is invisible to an affiliation-only frame.
No Canadian affiliation. An affiliation-only frame, the usual design, would never have seen this work. It is one of the works that make the case for inverting the frame.

Bibliographic record

VenueNature Communications · 2019
Typereview
Languageen
FieldMedicine
TopicPrenatal Screening and Diagnostics
Canadian institutionsnot available
FundersNational Institute of Neurological Disorders and StrokeMedical Research CouncilSeventh Framework ProgrammeCincinnati Children’s Research FoundationCollege of Pharmacy, University of MichiganMarch of Dimes Prematurity Research Center Ohio CollaborativeWellcome TrustNatureNational Institute of General Medical SciencesH. Lundbeck A/SHorizon 2020 Framework ProgrammeNovo Nordisk FondenNIHR Great Ormond Street Hospital Biomedical Research CentreSigrid Juséliuksen SäätiöUniversity of TorontoNovo NordiskNational Institute for Health and Care ResearchLundbeckfondenUniversity of MichiganNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Diabetes and Digestive and Kidney DiseasesWellcomeLupus Research AllianceOak FoundationNational Institutes of HealthU.S. Department of Health and Human ServicesMarch of Dimes FoundationCarlsbergfondetEuropean CommissionEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentZonMwBill and Melinda Gates Foundation
KeywordsGeneFetusCytokineBiologyGenomeGestational ageWhole genome sequencingImmunologyGeneticsMedicineBioinformaticsPregnancy

Abstract

fetched live from OpenAlex

Abstract The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P = 3.96 × 10 −14 ). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality.

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.

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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.965
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.002
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 head0.055
GPT teacher head0.348
Teacher spread0.292 · 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