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.
VenueCirculation Cardiovascular Genetics · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersInstitute of GeneticsNational Institute of Environmental Health SciencesNational Center for Research ResourcesNational Institute of General Medical SciencesNHLBI Division of Intramural ResearchNational Institute on AgingNIHR Leicester Biomedical Research CentreNIHR Oxford Biomedical Research CentreBarts and The London School of Medicine and DentistrySchool of Medicine, Stanford UniversityUniversity of IoanninaSygehus LillebæltHjartaverndNovo Nordisk Foundation Center for Basic Metabolic ResearchUniwersytet Medyczny im. Karola Marcinkowskiego w PoznaniuVaasan KeskussairaalaNovo Nordisk FondenMedical Research CouncilUppsala UniversitetTartu ÜlikoolNational Center for Advancing Translational SciencesEconomic and Social Research CouncilUniversità degli Studi di VeronaNational Institute of Mental HealthSyddansk UniversitetDeutsches Zentrum für Herz-KreislaufforschungUniversitair Medisch Centrum GroningenUniversità Cattolica del Sacro CuoreUniversity of DundeeSamfundet FolkhälsanCentre for Cognitive Ageing and Cognitive EpidemiologyDasman Diabetes InstituteKuopion Yliopistollinen SairaalaRegion HovedstadenNovo NordiskFaculty of Health and Medical Sciences, University of Western AustraliaNational University of SingaporeBritish Heart FoundationHáskóli ÍslandsKing Abdulaziz UniversityUniversity of BristolOulun YliopistoUniversity of GlasgowRijksuniversiteit GroningenDonau-Universität KremsUniversity of LeicesterMcGovern Medical SchoolVanderbilt University Medical CenterImperial College LondonNational Human Genome Research InstituteSchool of Medicine, Vanderbilt UniversityRigshospitaletUniversity of Texas Health Science Center at HoustonNational Institute for Health and Care ResearchDet Sundhedsvidenskabelige Fakultet, Københavns UniversitetUniversity of North Carolina at Chapel HillScience for Life LaboratoryQueen Mary University of LondonHarvard T.H. Chan School of Public HealthWellcome TrustNational Cancer InstituteLundbeckfondenUniversity College LondonImperial College Healthcare NHS TrustErasmus Medisch CentrumUniversity of OxfordNational Institutes of HealthVanderbilt-Ingram Cancer CenterUniversity of WashingtonBrigham and Women's HospitalNational Heart, Lung, and Blood InstituteBiotechnology and Biological Sciences Research CouncilItä-Suomen YliopistoNational Institute of Diabetes and Digestive and Kidney DiseasesHelsingin ja Uudenmaan SairaanhoitopiiriMassachusetts General HospitalMRC-PHE Centre for Environment and HealthUmeå UniversitetTaysSteno Diabetes Center CopenhagenLunds UniversitetTerveyden ja hyvinvoinnin laitosKing's College LondonHarokopio UniversityVanderbilt University
KeywordsGeneAlleleGenetic variationCandidate genePhenotypeGene expressionHaplotypeFunction (biology)Expression quantitative trait loci
Abstract
fetched live from OpenAlexBackground— Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An additional 100 variants yielded suggestive evidence of association. Methods and Results— Here, we augment the sample with 140 886 European individuals from the UK Biobank, in whom 77 of the 100 suggestive SNVs were available for association analysis with systolic BP or diastolic BP or pulse pressure. We performed 2 meta-analyses, one in individuals of European, South Asian, African, and Hispanic descent (pan-ancestry, ≈475 000), and the other in the subset of individuals of European descent (≈423 000). Twenty-one SNVs were genome-wide significant ( P <5×10 − 8 ) for BP, of which 4 are new BP loci: rs9678851 (missense, SLC4A1AP ), rs7437940 ( AFAP1 ), rs13303 (missense, STAB1 ), and rs1055144 ( 7p15.2 ). In addition, we identified a potentially independent novel BP-associated SNV, rs3416322 (missense, SYNPO2L ) at a known locus, uncorrelated with the previously reported SNVs. Two SNVs are associated with expression levels of nearby genes, and SNVs at 3 loci are associated with other traits. One SNV with a minor allele frequency <0.01, (rs3025380 at DBH ) was genome-wide significant. Conclusions— We report 4 novel loci associated with BP regulation, and 1 independent variant at an established BP locus. This analysis highlights several candidate genes with variation that alter protein function or gene expression for potential follow-up.
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 imitationNot 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)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.286
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
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.
Teacher spread0.241 · 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
