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Record W2168712092 · doi:10.1093/hmg/dds304

Genome-wide meta-analysis of common variant differences between men and women

2012· review· en· W2168712092 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

VenueHuman Molecular Genetics · 2012
Typereview
Languageen
FieldSocial Sciences
TopicDemographic Trends and Gender Preferences
Canadian institutionsOttawa HospitalUniversity of TorontoOntario Institute for Cancer Research
FundersU.S. National Library of MedicineNational Institute of Diabetes and Digestive and Kidney DiseasesNational Human Genome Research InstituteNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational Institute on AgingNational Institute on Alcohol Abuse and AlcoholismInstituto de Salud Carlos IIINational Health and Medical Research CouncilNational Institutes of HealthNovo NordiskCentre for Medical Systems BiologyAgence Nationale de la RechercheUniversität GreifswaldRaine Medical Research FoundationHjartaverndChinese Society of Clinical OncologyUniversiteit AntwerpenIncyteMedical Research CouncilTartu ÜlikoolCompagnia di San PaoloEmil Aaltosen SäätiöGlaxoSmithKlineSigne ja Ane Gyllenbergin SäätiöDeutsche ForschungsgemeinschaftNederlandse Organisatie voor Wetenschappelijk OnderzoekMinistero della SaluteCanadian Institutes of Health ResearchFonds Wetenschappelijk OnderzoekNational Center for Research ResourcesNierstichtingFondazione CariploAcademy of FinlandSociedad Española de Neumología y Cirugía TorácicaRadboud UniversiteitSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungMinisterio de Ciencia e InnovaciónNational Institute on Minority Health and Health DisparitiesEuropean CommissionWellcome TrustEesti TeadusfondiZonMwTampereen TuberkuloosisäätiöKelaEuropean Science FoundationScottish GovernmentNetherlands Heart InstituteDeutsches Zentrum für Herz-KreislaufforschungCancer Research UKAbbott LaboratoriesNational Institute for Health and Care ResearchUnity through Knowledge FundMünchner Zentrum für GesundheitswissenschaftenPfizerBundesministerium für Bildung und ForschungWomen and Infants Research FoundationErasmus Medisch CentrumVrije Universiteit AmsterdamNational Science Foundation
KeywordsMinor allele frequencyGeneticsSingle-nucleotide polymorphismGenome-wide association studyBiologyAlleleAllele frequencyMeta-analysisGenetic associationSex ratioDemographyPopulationGenotypeMedicineGeneInternal medicine

Abstract

fetched live from OpenAlex

The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ~115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.

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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.417
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0040.002
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.226
GPT teacher head0.381
Teacher spread0.156 · 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