Flagship Projects

PsycheMERGE investigators conduct research in a variety of areas.

Recent Projects

Substance use disorders genetics

We have explored the polygenic contributions of substance use disorders (alcohol, cannabis) across multiple medical phenotypes.

Our primary site has been BioVU, but it would be fantastic to replicate some of these findings across any other site that may be interested.

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Functional Seizures (FS)

Functional seizures (FS) are severely understudied paroxysmal episodes clinically similar to epileptic seizures but without aberrant brain electrical patterns. FS is thought to be primarily related to psychiatric distress. FS patients have high rates of psychiatric comorbidities, and around 75% are female.

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Examining the relationship between year of birth and polygenic risk scores

Polygenic risk scores (PRS) are already being used in the clinical context (e.g., cancer genetics) and they may eventually be implemented in routine clinical practice as clinical biomarkers. It is both important and urgent to develop a better understanding of how non-genetic factors biology may affect the value of the PRS, before applying them in clinical settings.

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PsycheMERGE Diversity Initiative

The availability of large-scale biobanks linking electronic health records (EHRs) to biospecimens has created a powerful opportunity for increasing diversity in psychiatric research. Defining and assigning case status is an important step in conducting research using EHR. Case status is often defined using phenotypic algorithms which have been developed from majority white individuals.

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LabWAS

The goal of the LabWAS workgroup is to leverage clinical lab tests stored in EHRs to understand the relationship between genetic risk for psychiatric disorders and quantitative physiological measurements. At Vanderbilt, we developed a pipeline to clean and analyze thousands of lab traits stored in EHRs, QualityLab and LabWAS. We conducted proof-of-principle analyses at Vanderbilt and MGB demonstrating cardiovascular disease polygenic scores associated with known risk factors using the cleaned lab values.

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PRS and Clinical Outcomes Analysis

The goal of the PRS and Clinical Outcomes workgroup is to explore the associations between polygenic risk scores (PRS) for various psychiatric conditions (e.g., bipolar, schizophrenia, major depression disorder) and healthcare utilization. Analyses are performed at Geisinger, Vanderbilt, and MGB.

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Bipolar Disorder Risk Prediction

We aim to use clinical characteristics of individuals with a bipolar disorder (BD) diagnosis to identify undiagnosed cases and individuals at high predicted risk for being a case. At three participating sites (VUMC, MGB, GHS), we will derive risk prediction models for BD using several machine-learning approaches (Naïve Bayes, Random Forest, XGBoost).

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