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Context-dependent variant interpretation from Mendelian disease to genetic predisposition: a proof-of-concept using <i>LPL</i>

2026-08-17

Abstract excerpt

As genomic sequencing evolves beyond rare disease diagnostics toward population screening and precision medicine, clinical variant interpretation is increasingly challenged by variants whose clinical consequences depend on biological context. Current frameworks, including the ACMG/AMP guidelines, generally assign a single classification to each variant regardless of inheritance state or genetic context, potentiall...

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Literature Corpus work
1a63377b-c428-5b92-b3db-1098be5961c0
DOI
10.64898/2026.08.12.744351
Open publication

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