Investigation of the genetic cause of hearing loss in Newfoundland families
Bibliographic record
Abstract
The purpose of this study was to determine the genetic cause of hearing loss in a seven-generation Newfoundland family. Twenty-nine family members were recruited segregating autosomal dominant hearing loss. Genome-wide SNP genotyping and linkage analysis showed significant linkage (LOD=4.77) to chromosome 13q34. The region contained 26 genes and a known deafness locus (DFNA33). Exome sequencing identified 13 variants of interest within the linked region, but only 3 co-segregated with hearing loss: F10 c.865+26C>T, ADPRHL1 c.380-17C>A and c.380-16T>G. All three were absent from 81 population controls, yet the ADPRHL1 c.380-17C>A and c.380-16T>G were identified in two other probands with hearing loss. All three were predicted to affect splicing of nearby exons, however cDNA analysis of ADPRHL1 showed no effect. F10 c.865+26C>T, ADPRHL1 c.380-17C>A and c.380-16T>G are rare, co-segregate with hearing loss, and are possibly pathogenic. Conversely, they may help form a disease haplotype and exist in linkage disequilibrium with the causal mutation. However, the putative ADPRHL1 variants have been found in multiple families with hearing loss and further investigations are necessary to elucidate their effect.
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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 | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".