Marcos López‐Sánchez

This study develops a humanized yeast model to study TRAPP complex mutations, showing that human TRAPPC1 variants cause secretion and autophagy defects in yeast, mirroring human fibroblast defects.

The paper introduces recombClust, a method to detect historic recombination differences in populations, and applies it to identify recombination histories linked to phenotypic traits in humans.

MADloy improves mLOY detection using genotype-array-intensity data, showing better accuracy and statistical power in disease association studies.

The paper identifies common polymorphic inversions associated with multiple common diseases and suggests their role in shared genetic susceptibility.