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Article

The utility of artificial intelligence for DNA variant curation in the Mendelian genetic disorder familial hypercholesterolaemia.

Pathology - 1 Aug 2026

Kaul Dominic, Le Huong, Kwan Edward, Trent Ronald J

Abstract excerpt

The assessment of DNA sequence variants for biological function and their classification into risk categories is time-consuming. This has widened the gap between the rapid generation of genomic data and the issuing of clinical reports. The human input for variant curation requires the additional use of artificial intelligence (AI) to address efficiency and accuracy. A commercial AI tool called Franklin (Genoox...

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PMID: 42342461
DOI: 10.1016/j.pathol.2026.03.015

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LDLR
FH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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