Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.
View Article and Find Full Text PDFThe electronic health record (EHR) provides valuable data for understanding physical and mental health conditions in autism. We developed an approach to identify charts of autistic young adults, retrieved from our institution's de-identified EHR database. Clinical notes within two cohorts were identified.
View Article and Find Full Text PDFObjective/background: Sleep problems are common in people on the autism spectrum. This study reviews one detailed approach to querying the electronic health record (EHR) in a large tertiary care center.
Patients/methods: We developed methods for identifying people on the autism spectrum and defined their sleep problems using the key words, "sleep" or "melatonin", or International Classification of Diseases (ICD) codes.