James Guevara

The paper identifies non-SNP variants as significant regulators of gene expression and addiction-related traits in HS rats using joint cis-eQTL analysis.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

This study shows that long-read genome sequencing improves detection of structural and repeat variants in autism and links them to functional consequences.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

SynthDNM is a classifier that adapts to new variant calling pipelines by using simulated training examples to accurately detect de novo mutations.