MétaCan
Menu
Back to cohort
Record W4388217354 · doi:10.1038/s41588-023-01527-3

An atlas of genetic determinants of forearm fracture

2023· article· en· W4388217354 on OpenAlexaff
Maria Nethander, Sofia Movérare‐Skrtic, Anders Kämpe, Eivind Coward, Ene Reimann, Louise Grahnemo, Éva Borbély, Zsuzsanna Helyes, Thomas Funck‐Brentano, Martine Cohen‐Solal, Juha Tuukkanen, Antti Koskela, Jianyao Wu, Lei Li, Tianyuan Lu, Maiken E. Gabrielsen, Reedik Mägi, Mari Hoff, Ulf H. Lerner, Petra Henning, Henrik Ullum, Christian Erikstrup, Søren Brunak, Arnulf Langhammer, Ásmundur Oddsson, Kāri Stefánsson, U. Pettersson, Sisse Rye Ostrowski, Ole Birger Pedersen, Unnur Styrkársdóttir, Outi Mäkitie, Kristian Hveem, J. Brent Richards, Claes Ohlsson

Bibliographic record

VenueNature Genetics · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityJewish General Hospital
FundersNational Research, Development and Innovation OfficeEuropean Regional Development FundJanssen BiotechMedical Research CouncilGenentechNovo Nordisk FondenFaculty of Medicine and Health, University of SydneySvenska LäkaresällskapetGöteborgs UniversitetDanmarks Frie ForskningsfondVetenskapsrådetFonden til Lægevidenskabens FremmeBusiness FinlandNorthwest Regional Development AgencyKnut och Alice Wallenbergs StiftelseHungarian Scientific Research FundMagyar Tudományos AkadémiaDiabetes UKEesti TeadusagentuurBritish Heart FoundationNovo NordiskNational Institute for Health and Care ResearchWellcome TrustCancer Research UKMaze TherapeuticsSanofiNorges Teknisk-Naturvitenskapelige UniversitetUmeå UniversitetEuropean CommissionInnovációs és Technológiai MinisztériumBristol-Myers SquibbKempe FoundationNorwegian Institute of Public HealthNovartisCelgenePfizerBiogenGlaxoSmithKlineAstraZeneca
KeywordsBiologyAtlas (anatomy)ForearmEvolutionary biologyGeneticsComputational biologyAnatomy

Abstract

fetched live from OpenAlex

Abstract Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability. To establish an atlas of the genetic determinants of forearm fractures, we performed genome-wide association analyses including 100,026 forearm fracture cases. We identified 43 loci, including 26 new fracture loci. Although most fracture loci associated with bone mineral density, we also identified loci that primarily regulate bone quality parameters. Functional studies of one such locus, at TAC4 , revealed that Tac4 – / – mice have reduced mechanical bone strength. The strongest forearm fracture signal, at WNT16 , displayed remarkable bone-site-specificity with no association with hip fractures. Tall stature and low body mass index were identified as new causal risk factors for fractures. The insights from this atlas may improve fracture prediction and enable therapeutic development to prevent fractures.

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)0.001
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.012
Threshold uncertainty score0.042

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0120.002

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 head0.009
GPT teacher head0.303
Teacher spread0.293 · 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
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

Citations16
Published2023
Admission routes1
Has abstractyes

Explore more

Same venueNature GeneticsSame topicGenetic Associations and EpidemiologyFrench-language works237,207