Emma Davenport, eQTL and sQTL

• What are the genes, cell-types and pathways that mediate disease progression?

Overview

• Expression based stratification of critical care patients
• Splicing and eQTLs

Sepsis

• No reliable diagnostic marker
• Current therapy includes antibiotics and organ support (no targeted treatments)
• 150+ clinical trials
• Substantial individual variance in response

Genomic Advances in Sepsis (GAinS) study

Established in 2005 - www.ukccggains.com

• Community Acquired Pneumonia (CAP)
• Fecal Peritonitis (FP)

Data collected for each patient on days 1, 3, and/or 5 after ICU admission

SepstratifieR: R package for SRS assignment and quantitative SRS score.

Genetic contribution to gene expression

eQTL mapping. SRS eQTL interactions. Genome Biology 2018

823 samples from 638 patients with RNA-seq and genotyping.