Polina Belokopytova

Recently, chromosome conformation capture techniques such as Hi-C were utilized to detect structural variants in the genomes of patients with hereditary diseases [46]. We propose several modifications to this method, allowing to achieve high and uniform coverage of exome sequences while retaining information about chromatin contacts genome-wide (Fig. 1A and 1B).

Abstract Topologically associated domains (TADs) are believed to be involved in the regulation of gene expression. While the impact of TAD perturbations is usually studied in developmental genes with highly cell-type-specific expression patterns, this study examines genes with broad expression profiles divided by a strong insulatory boundary.

Abstract Effective molecular diagnosis of congenital diseases hinges on comprehensive genomic analysis, traditionally reliant on various methodologies specific to each variant type - whole exome or genome sequencing for single nucleotide variants (SNVs), array CGH for copy-number variants (CNVs), and microscopy for structural variants (SVs). We introduce a novel, integrative approach combining exome sequencing with chromosome conformation capture, termed Exo-C.