Gundula Povysil

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

ATAV provides a scalable platform for population-scale genomic analyses, enabling efficient variant storage, querying, and disease association studies with over 110,000 samples.

The paper develops quality control tools to improve duplex sequencing data yields by reducing data loss and enhancing variant calling accuracy.

This study uses exome data from 24,576 asthma cases and 120,530 controls to identify rare variants associated with asthma risk, revealing novel subgroups and gene effects.

The paper corrects errors in duplex sequencing data to reunite reads and improve the efficiency of variant detection.

The paper investigates how length asymmetry and heterozygosity affect poly-A microsatellite evolution at meiotic recombination hotspots, finding deletion and insertion biases based on allele length differences.