Extended Data Fig. 9: Identification of disease gene through expression outlier detection.
From: Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

MECR case. a, Proband results. After our most stringent filter, there are 11 candidate genes left and MECR is rank 2nd by Z-score. b, Proband’s brother. After filtering, only 15 out of 1,099 expression outliers are left and MECR is ranked 10th in that list.