Advances in sequencing technologies have transformed human genetics and accelerated disease gene discovery. Yet a causal mutation remains to be identified for many families with an inherited disease. Incomplete penetrance, genetic heterogeneity, and limited family history can complicate the binary classification of fam...
L. Henden, Sandrine Chan Moi Fat, Andrew N. Smith et al.· Brain : a journal of neurolo...· 0 citations
This tutorial reviews several widely used methods for pleiotropy detection from GWAS summary statistics, including ASSET, PLACO, GPA, CPBayes, and GCPBayes, and demonstrates their application using breast and thyroid cancer datasets.
Christina Y. Feng, P. Sugier, Nan Zou et al.· Statistics in Medicine· 0 citations
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