Comparison of aggregation methods for multiphenotype exomic variant prioritization
Alejandro Sifrim, Dusan Popovic, Joris R. Vermeesch, Jan Aerts, Bart De Moor, Yves Moreau
This study compares aggregation methods for prioritizing exomic variants in multiphenotype Mendelian disorders, showing that method selection depends on the fraction of uninformative phenotypes.
bioRxiv · Jul 20, 2016 · PreprintBioinformatics