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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

2017· article· en· 928 citations· W2763010484 on OpenAlex· 10.1038/ng.3970

Why is this work in the frame?

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

Canadian affiliationAn author listed a Canadian institution. This is the only route the usual frame has.

Machine scores (provisional)

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

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.

Opus teacher head0.009
GPT teacher head0.302
Teacher spread
0.292 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Abstract

No abstract. This is not a gap in this database — OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

The record

Venue
Nature Genetics
Topic
Congenital heart defects research
Field
Biochemistry, Genetics and Molecular Biology
Canadian institutions
SickKids FoundationHospital for Sick ChildrenUniversity of Toronto
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of General Medical SciencesNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteNational Institutes of Health
Keywords
ProbandBiologyGeneticsExome sequencingHeart diseaseExomeTetralogy of FallotMutationGeneInternal medicineMedicine
Has abstract in OpenAlex
no