Article

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

2025-05-15

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: faf7cf17-f157-59a6-bbff-94a1fb4556d0
DOI: 10.21203/rs.3.rs-6532096/v1

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