17q12 Knowledge Basedeletion syndrome · static snapshot
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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)

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)

ArticleSourcePublishedSeenRelevance
From Guidelines to Practice: Pilot Implementation and Analytical Bo... openalex 2026-08-28 yesterday 0.76