Bayesian copy number detection and association in large-scale studies

Published in BMC Cancer, 2020

Recommended citation: Cristiano S et al. (2020). "Bayesian copy number detection and association in large-scale studies." BMC Cancer. 20(1). http://rscharpf.github.io/files/Cristiano_et_al_BMCcancer_2020.pdf

Using genomic data from multiple study cites, this paper demonstrates that lab effects are not necessarily the principal source of batch effects in large scale studies. We develop a Bayesian hierarchical model for DNA copy number, controlling for batch effects by grouping chemistry plates in a manner that is dependent on the genomic region. Probalistic estimates of copy number are incorporated in a Bayesian logistic regression model for pancreatic cancer risk.

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