Polina S. Belokopytova

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.

Charm simulates Hi-C-like data with chromosomal rearrangements to benchmark SV detection tools and provides a dataset for future benchmarking.

The paper deletes TAD boundaries at the Kit locus in mice and shows that this causes tissue-specific ectopic activation of a neighboring gene in melanocytes, leading to lighter coloration.

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.

This study derives multipotent stem cells from ringed seal fibroblasts, which can differentiate into adipocytes and osteocytes but not into neuronal cells.

This study profiles 3D genome organization in five Anopheles mosquito species, identifying long-range looping interactions conserved over 100 million years and distinct from known chromatin mechanisms.

The paper shows that some chromatin interaction prediction algorithms overestimate their performance and proposes an alternative method using gene expression and CTCF-binding to predict enhancer-promoter interactions with high accuracy.