New publication
Genes & inheritance
1 supporting source
confidence 97%
novelty 75%
From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
How this was derived
Indexed from **openalex** on 2026-11-13 (relevance 0.76, tier peer_reviewed).
Generated 2026-11-13, last changed
yesterday. Dedup key newdoc:547.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
peer_reviewed
· published 2026-08-28
· live page
Seven of nine panel-first cases yielded observations: one HNF1B and one unique-locus PKD1 finding were supported, whereas four duplicated-sequence PKD1 findings remained confirmation-dependent.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| From Guidelines to Practice: Pilot Implementation and Analytical Bo... | openalex | 2026-08-28 | yesterday | 0.76 |