Detection of Point Mutations and Chromosomal Translocations Based on Massive Parallel Sequencing of Enriched 3C Libraries

Abstract: The diagnosis and treatment of patients with hereditary diseases require the creation of efficient methods for the study of individual genomes. The existing approaches either are aimed at searching for a narrow set of genomic variants or are too expensive to use in routine practice. We studied the possibility of detection point mutations and interchromosomal translocations using sequencing of enriched 3C libraries. We demonstrated that enriched 3C libraries are more informative from the point of view of detecting the variants in exons than whole genome libraries, but are inferior to whole exome data. At the same time, translocations significantly change the profile of the chromatin spatial contacts, which makes it possible to detect efficiently such rearrangements when analyzing enriched 3C libraries.