Simone Tomasi

Modeling diagnostic code dropout of schizophrenia in electronic health records improves phenotypic data quality and cross-ancestry transferability of polygenic scores

This paper models diagnostic code dropout in EHR data to improve phenotyping for schizophrenia, enhancing polygenic score transferability across ancestries.

Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression in the VA Health Care System

The paper validates polygenic risk scores for schizophrenia, bipolar disorder, and depression using VA EHR data and shows their association with disease risk and hospitalization.

Comprehensive identification of somatic nucleotide variants in human brain tissue

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

Early developmental asymmetries in cell lineage trees in living individuals

The paper tracks cell lineages in humans using post-zygotic mutations and finds lineage imbalance and correlations with developmental axes.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.