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Article

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

European journal of human genetics : EJHG - 1 Mar 2026

Bylstra Yasmin, Lim Weng Khong, Teo Jing Xian, Menezes Melody, Hodgson Jan, Yap Fabian, Chambers John C, Yeo Khung Keong, Tan Patrick, Amor David J, Jamuar Saumya S

Abstract excerpt

The expansion of genomics provides opportunity to screen individuals beyond clinical indication yet the classification of genomic variants and implications for health outcomes in this context is still emerging. We investigated this further by analysing clinically relevant variants and expected clinical implications in a population with no reported medical conditions. Whole genomes from 9637 healthy unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41520097
DOI: 10.1038/s41431-025-02009-2
PMCID: PMC12963384

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