European journal of human genetics : EJHG
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Yasmin Bylstra, Weng Khong Lim, Jing Xian Teo, Melody Menezes, Jan Hodgson, Fabian Yap, John C Chambers, Khung Keong Yeo, Patrick Tan, David J Amor, Saumya S Jamuar
Published: 202610.1038/s41431-025-02009-2
Abstract
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 analysi…
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