Article

Rare variants in infection response protein pathways associated with sepsis in children

2025-06-12

Abstract excerpt

1 Sepsis is a major contributor to mortality in paediatric patients. We investigated the human genetic underpinnings of sepsis by analysing a large paediatric cohort with blood-culture confirmed sepsis through multi-tiered genomic assessments: single-case, single-variant, single-gene, and protein pathway analyses. We designed and applied novel analytical methods to automate for unbiased interpretation. We identifi...

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Literature Corpus work: ab5bf009-d060-591e-a713-e869ba8346bc
DOI: 10.1101/2025.06.12.25329504

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