Article
VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data.
GigaScience - 1 Aug 2020
Bayat Arash, Szul Piotr, O'Brien Aidan R, Dunne Robert, Hosking Brendan, Jain Yatish, Hosking Cameron, Luo Oscar J, Twine Natalie, Bauer Denis C
Abstract excerpt
BACKGROUND: Many traits and diseases are thought to be driven by >1 gene (polygenic). Polygenic risk scores (PRS) hence expand on genome-wide association studies by taking multiple genes into account when risk models are built. However, PRS only considers the additive effect of individual genes but not epistatic interactions or the combination of individual and interacting drivers. While evidence of epistatic...
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