17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication Genes & inheritance 1 supporting source confidence 97% novelty 75%

From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder

Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.

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How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:545. 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 Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder peer_reviewed · published 2026-10-09 · live page
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder Abstract Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangem... openalex 2026-10-09 yesterday 1.00