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Record W4206699848 · doi:10.1038/s41588-021-00996-8

Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

2022· article· en· W4206699848 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.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueNature Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA regulation and disease
Canadian institutionsMcGill UniversityJewish General Hospital
FundersHealth Data Research UKCIHR Skin Research Training CentreNational Institute of General Medical SciencesJapan Society for the Promotion of ScienceNational Center for Advancing Translational SciencesMedical Research CouncilFonds de Recherche du Québec - SantéPerelman School of Medicine, University of PennsylvaniaMagnus Bergvalls StiftelseFonds de Recherche du Québec-Société et CultureNordForskVetenskapsrådetEuropean CommissionResearch Councils UKCanadian Institutes of Health ResearchCompute CanadaBiotechnology and Biological Sciences Research CouncilWellcome TrustCancer Research UKUniversity of PennsylvaniaPublic Health AgencyNational Institute of Diabetes and Digestive and Kidney DiseasesGovernment of CanadaMcGill UniversityPublic Health Agency of CanadaRegeneron PharmaceuticalsNational Institutes of HealthU.S. Department of Health and Human ServicesJewish General HospitalKing's College LondonJeanssons StiftelserNational Institute for Health and Care Research
KeywordsBiologyHaplotypeLocus (genetics)GeneticsSNPGeneCoronavirus disease 2019 (COVID-19)spliceSingle-nucleotide polymorphismGenotypeDiseaseInfectious disease (medical specialty)

Abstract

fetched live from OpenAlex

The OAS1/2/3 cluster has been identified as a risk locus for severe COVID-19 among individuals of European ancestry, with a protective haplotype of approximately 75 kilobases (kb) derived from Neanderthals in the chromosomal region 12q24.13. This haplotype contains a splice variant of OAS1, which occurs in people of African ancestry independently of gene flow from Neanderthals. Using trans-ancestry fine-mapping approaches in 20,779 hospitalized cases, we demonstrate that this splice variant is likely to be the SNP responsible for the association at this locus, thus strongly implicating OAS1 as an effector gene influencing COVID-19 severity.

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)0.000
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 score0.238
Threshold uncertainty score0.492

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 integrity0.0000.000
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 head0.016
GPT teacher head0.297
Teacher spread0.281 · 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