Yana Stepanchuk

The paper demonstrates an integrative approach combining cytological, genomic, and transcriptomic methods to detect and characterize complex structural variants affecting specific genes and report a new neurodevelopmental phenotype.

The paper shows that disrupting TAD boundaries in the Slc29a3/Unc5b locus causes tissue-specific transcriptional changes in multiple genes.

This paper introduces a method combining exome sequencing and chromosome conformation capture to detect both SNVs and SVs, demonstrating its effectiveness in identifying causative variants in rare disorders.