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Article

Redefining the Diagnostic Intermediate in Trio Genome Sequencing for Neurodevelopmental Disorders

2026-08-18

Abstract excerpt

<h4>Purpose: </h4> To develop a proband-level five-tier outcome classification for trio genome sequencing (GS) in neurodevelopmental disorders (NDD), and, in a small subgroup, to explore what is associated with a full versus partial phenotype match to a candidate gene’s disease spectrum. Methods. A rule-based five-tier framework integrating ACMG/AMP classification, ClinGen gene-disease validity, phenotype concorda...

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Literature Corpus work
93ee8551-7e58-51b3-b3e5-424974a328c0
DOI
10.20944/preprints202608.1197.v1
Open publication

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Redefining the Diagnostic Intermediate in Trio Genome Sequencing for Neurodevelopmental DisordersDOI 10.20944/preprints202608.1197.v1
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