Jin Szatkiewicz

3D-genome impacts of TAD-boundary-disrupting ultra-rare structural variants identified in schizophrenia

The paper identifies and functionally characterizes TAD-boundary-disrupting ultra-rare structural variants in schizophrenia using CRISPR/Cas9 in iPSCs, showing cell-type-specific effects on 3D-genome organization and gene expression.

Title: Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease

The paper uses evolutionary constraint scores to identify functional genomic regions and finds they are enriched for variants associated with common diseases.

DeepGWAS: Enhance GWAS Signals for Neuropsychiatric Disorders via Deep Neural Network

DeepGWAS enhances GWAS signals for neuropsychiatric disorders using deep neural networks, improving locus detection in schizophrenia and validating results in other disorders.

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis

The paper finds that rare copy number variants (CNVs) are more common in treatment-resistant psychosis patients compared to a general schizophrenia cohort, with duplications at 15q11.2-q13.1 and 16p11.2 linked to treatment resistance.

Association Tests Using Copy Number Profile Curves (CONCUR) Enhances Power in Rare Copy Number Variant Analysis

CONCUR improves power in rare CNV analysis by comparing copy number profiles without requiring locus definitions.

Characterization of single gene copy number variants in schizophrenia

The paper investigates the role of single-gene copy number variants in schizophrenia risk using exome-sequencing data from a Swedish cohort, identifying significant deletions in voltage-gated calcium channels.

Common Variant Associations with Fragile X Syndrome

This study identifies genome-wide significant associations near FMR1 with Fragile X Syndrome in males, highlighting the complexity of monogenetic disorders.