Sofia Stamouli

The paper introduces nf-core/taxprofiler, a pipeline for automated metagenomic taxonomic classification and profiling using multiple tools and databases.

This study investigates whether rare copy number variations (CNVs) moderate response to social skills training in ASD, finding that large CNVs are associated with worse outcomes while small CNVs show mixed effects.

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.