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Record W4229082197 · doi:10.1101/2022.05.04.22274624

Genetic effects on the timing of parturition and links to fetal birth weight

2022· preprint· en· W4229082197 on OpenAlexaff
Pol Solé-Navais, Christopher Flatley, Valgerður Steinthórsdóttir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail L. LaBella, David Westergaard, Jonas Bačelis, Ben Brumpton, Line Skotte, Maria Carolina Borges, Øyvind Helgeland, Anubha Mahajan, Matthias Wielscher, Frederick T. J. Lin, Catherine Briggs, Carol A. Wang, Gunn-Helen Moen, Robin N. Beaumont, Jonathan P. Bradfield, Abin Abraham, Guðmar Þorleifsson, Maiken E. Gabrielsen, Sisse Rye Ostrowski, Dominika Modzelewska, Ellen A. Nøhr, Elina Hyppönen, Amit Srivastava, Octavious Talbot, Catherine Allard, Scott M. Williams, Ramkumar Menon, Beverley M. Shields, Garðar Sveinbjörnsson, Huan Xu, Mads Melbye, Lowe Jr William, Luigi Bouchard, Emily Oken, Ole Birger Pedersen, Daníel F. Guðbjartsson, Christian Erikstrup, Erik Sørensen, Rolv T. Lie, Kari Teramo, Mikko Hallman, Thorhildur Juliusdottir, Håkon Håkonarson, Henrik Ullum, Andrew T. Hattersley, Line Sletner, Mario Merialdi, Sheryl L. Rifas‐Shiman, Þóra Steingrímsdóttir, Denise Scholtens, Christine Power, Jane West, Mette Nyegaard, John A Capra, Anne Heidi Skogholt, Per Magnus, Ole A. Andreassen, Unnur Þorsteinsdóttir, Struan F.A. Grant, Elisabeth Qvigstad, Craig E. Pennell, Marie‐France Hivert, M. Geoffrey Hayes, Marjo‐Riitta Järvelin, Mark I. McCarthy, Henriette Svarre Nielsen, Reedik Mägi, Antonis Rokas, Kristian Hveem, Bjarke Feenstra, Pål R. Njølstad, Louis J. Muglia, Rachel M. Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson

Bibliographic record

VenuemedRxiv · 2022
Typepreprint
Languageen
FieldMedicine
TopicPreterm Birth and Chorioamnionitis
Canadian institutionsCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanUniversité de SherbrookeCentre Hospitalier Universitaire de Sherbrooke
FundersMedical Research Council
KeywordsFetusPleiotropyGestational ageAlleleBiologyPregnancyBirth weightGestationObstetricsDuration (music)GeneticsMedicineGenePhenotype

Abstract

fetched live from OpenAlex

The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (cases = 18,797, controls = 260,246) revealed 6 associated loci, and large genetic similarities with gestational duration. Analysis of the parental transmitted and non-transmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, while seven act both through the maternal and fetal, and two act only via the fetal genome. Finally, the maternal effects on gestational duration show signs of antagonistic pleiotropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have negative fetal effects on birth weight.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.235
Threshold uncertainty score0.532

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.018
GPT teacher head0.255
Teacher spread0.238 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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

Citations13
Published2022
Admission routes1
Has abstractyes

Explore more

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