Ellen A. Tsai

Feb 25, 2024 | nature.com | Max Lam |Jimmy Liu |Daniel F Levey |Joel Gelernter |Murray B. Stein |Ellen A. Tsai | +3 more

AbstractNearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS). However, the impact of rare coding variants on depression remains poorly understood. Here, we present whole-exome sequencing analyses of depression with seven different definitions based on survey, questionnaire, and electronic health records in 320,356 UK Biobank participants.

Jan 22, 2024 | genomebiology.biomedcentral.com | Martijn Vochteloo |Patrick Deelen |Ellen A. Tsai |Heiko Runz |Sergio Andreu-Sánchez |Jingyuan Fu | +4 more

PICALO is an EM-based algorithm for the identification of known and unknown contexts that influence the regulatory effect of genetic variants on gene expression. PICALO takes as input a set of eQTLs and their corresponding expression and genotype data, as well as a set of starting positions (e.g., potential context components). Optional arguments allow for the correction of technical covariates both with and without an interaction term.

May 25, 2023 | nature.com | Chia-Yen Chen |Max Lam |Tarjinder Singh |Jimmy Liu |Aarno Palotie |Ellen A. Tsai | +4 more

AbstractCompelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding variants impact cognitive function in the adult population (n = 485,930). We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive function through rare coding variants with large effects.