L. O. Olde Loohuis

Generative Large Language Models for Psychiatric Concept Detection in Spanish-Language Electronic Health Records: Development and Evaluation Study.

BACKGROUND The accurate detection of clinical symptoms in electronic health records (EHRs) is pivotal for advancing large-scale genetic and longitudinal studies in psychiatry. Free-text clinical notes are an essential source of symptom-level information, particularly in psychiatry; however, the automated extraction of...

Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia

In this study, we present the largest rare coding variant association study of schizophrenia to date, with 87,959 schizophrenia cases and 150,587 controls. We identify 16 genes at exome-wide significance: SETD1A, ZMYM2, HERC1, RB1CC1, SCAF1, XPO7, SP4, FYN, PPP3CA, CUL1, HDAC9, JARID2, ATP9A, PTK2, STAG1, and SCN2A, an...

The Paisa Kids Study: Rationale, Methods, and Initial Characterization of a Youth Cohort at Transdiagnostic High Risk for Serious Mental Illness

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Together, these results implicate a constellation of rare variants that map onto neuronal biology and demonstrate that diverse global populations converge on shared genetic signals underlying BD risk.

A founder population reveals genetic variation with major effect on serious mental illness

Genetic studies of serious mental illness (SMI, including schizophrenia and bipolar disorder) have implicated two classes of risk variant: common variants1-3, each of small effect but collectively accounting for most population-level risk, and ultra-rare coding variants4,5 which confer large risk in a small number of i...

Large-Scale Psychiatric Concept Extraction from Electronic Health Records: A Comparative Study of Encoder-Based Language Models

General-purpose pre-trained encoders had strong performance for psychiatric concept extraction from Spanish EHRs, and the utility of these relatively lightweight models for scalable, accurate and reproducible detection of psychiatric concepts in Spanish-language EHRs is highlighted.

Distinguishing different psychiatric disorders using DDx-PRS

Despite great progress on case–control polygenic prediction, an unmet need remains for a method that genetically distinguishes clinically related disorders (e.g., schizophrenia (SCZ) versus bipolar disorder (BIP) versus major depressive disorder (MDD) versus controls). We introduce differential diagnosis–polygenic risk...