Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases.

Oliver S BurrenGuillermo RealesLimy WongJohn BowesJames C LeeAnne BartonPaul A LyonsKenneth G C SmithWendy ThomsonPaul D W KirkChris Wallace

Published in: Genome medicine (2020)

Requiring only summary-level data, our unsupervised approach allows the genetic architectures across any range of clinically related traits to be characterised in fewer dimensions. This facilitates the analysis of studies with modest sample size by matching shared axes of both genetic and biological risk across a wider disease domain, and provides an evidence base for possible therapeutic repurposing opportunities.

Keyphrases

genome wide
risk factors
machine learning
copy number
dna methylation
big data
gene expression
deep learning
artificial intelligence