Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.
MANOCCA: a robust and computationally efficient test of covariance in high-dimension multivariate omics data.
Multitrait Analysis to Decipher the Intertwined Genetic Architecture of Neuroanatomical Phenotypes and Psychiatric Disorders.