Whole exome sequencing analysis of intracranial aneurysm in multiplex families from Newfoundland and Labrador
Bibliographic record
Abstract
Intracranial aneurysm (IA) is a vascular condition characterized as a saccular dilatation of the cerebral artery wall. The purpose of this study was to identify genetic variants that cause susceptibility to IA in two multiplex families from Newfoundland and Labrador. Whole exome sequencing was completed for 12 affected individuals from families R1352 and R1256. A filtering strategy was then implemented to identify and prioritize rare variants that were shared by multiple affected family members. In family R1352, two variants were identified as top candidates: C4orf6 c.1A>G, and GIGYF2 c.3494A>G. Both were present in 6/7 exomes from the family, and passed all filtering steps. In family R1256, SPDYE4 c.103C>T was identified as a variant of interest, as it segregated in 10/11 affected individuals. Though each variant exhibited incomplete segregation, all three were absent from 100 local population controls. The absence of a definitive candidate variant in the exome suggests that further study is necessary to gain better understanding of the genetic etiology of this disease.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".