Publications by authors named "S Zollner"
Polygenic risk scores (PRSs) depend on genetic ancestry due to differences in allele frequencies between ancestral populations. This leads to implementation challenges in diverse populations. We propose a framework to calibrate PRS based on ancestral makeup.
View Article and Find Full Text PDFIn studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole genome sequencing of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study).
View Article and Find Full Text PDFArticle Synopsis
- The A allele of rs334 in the β-globin gene significantly predicts pneumonia in African American adults, and this study explores its impact on African American children.
- Genome-wide association analyses were conducted on 482 children with pneumonia and 2,048 controls, revealing rs334 as the most significant variant when using imputed genotypes from a specific reference panel.
- The findings suggest that, like in adults, genetic variations in the β-globin locus that increase the risk for sickle cell disease are also the strongest predictors of pneumonia in African American children.
Article Synopsis
- Spatial transcriptomics (ST) technologies allow for in-depth gene expression analysis at a very fine scale, but traditional methods face challenges due to complex tissue structures and irregular cell shapes.
- The new method, FICTURE, offers a segmentation-free approach that can analyze large-scale transcriptome data with submicron precision, making it compatible with different types of ST data.
- FICTURE is significantly more efficient than existing methods and improves our understanding of intricate tissue architectures in challenging areas like vascular and fibrotic tissues, enhancing the exploration of high-resolution spatial transcriptomics.
Article Synopsis
- Venous thromboembolism (VTE) poses significant health risks, with a notable difference in incidence rates between Black and White Americans.
- Researchers developed polygenic risk scores (PRSs) for VTE using data from both European and African-ancestry populations to enhance predictive capability.
- Results showed that multi-ancestry PRSs slightly outperformed ancestry-specific ones in predicting VTE risk, indicating potential benefits in using diverse data for better risk assessment across populations.