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PANGEN: an online platform for the comparison and creation of diagnostic gene panels.

Database : the journal of biological databases and curation - 23 Jul 2024

Isakov Ofer, Marek-Yagel Dina, Greenberg Rotem, Naftali Michal, Ben-Shachar Shay

Abstract excerpt

Targeted gene panel sequencing is used to limit the search for causative genetic variants solely to genes with an established association with the phenotype. The design of gene panels is challenging due to the lack of consensus regarding phenotypic associations for some genes, which results in high variation in gene composition for the same panel offered by different laboratories. We developed PANGEN, a platform...

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PMID: 39043627
DOI: 10.1093/database/baae065
PMCID: PMC11265858

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