Isabell Schumann

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

altAFplotter detects uniparental disomies in NGS data by analyzing runs of homozygosity and variant inheritance ratios, providing a web tool for reliable UPD analysis.

This study shows that overexpression of the Drosophila Bchs gene, an ortholog of human WDFY3, causes neural developmental issues in both neurons and glial cells, mirroring human neurodevelopmental disorders.