Stephanie A. Santorico

This study identifies over 400,000 CNVs in 3400 Bantu African children, highlighting common CNVs overlapping disease-associated genes and providing a large dataset for African ancestry CNV research.

The paper introduces a mixture model for case-control studies to account for disease heterogeneity, showing reduced bias in odds ratio estimates compared to standard logistic regression.

This paper identifies shared genetic risk factors between schizophrenia and 19 immune diseases, including three variants with pleiotropic effects and significant genetic correlations for several immune diseases.

ProxECAT is a new method that uses external control allele frequencies to test for genetic associations in case-control studies, increasing power while maintaining type I error rates.