A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing
Gridina, M.; Lagunov, T.; Belokopytova, P.; Torgunakov, N.; Nuriddinov, M.; Nurislamov, A.; Nazarenko, L.; Kashevarova, A.; Lopatkina, M.; Belyaeva, E.; Salyukova, O.; Cheremnykh, A.; Suhanova, N.; Minzhenkova, M.; Markova, Z.; Demina, N.; Stepanchuk, Y.; Khabarova, A.; Yan, A.; Valeev, E.; Koksharova, G.; Grigoreva, E.; Kokh, N.; Lukjanova, T.; Maximova, Y.; Musatova, E.; Shabanova, E.; Kechin, A.; Khrapov, E.; Boyarskih, U.; Ryzhkova, O.; Suntsova, M.; Matrosova, A.; Karoli, M.; Manakhov, A.; Filipenko, M.; Rogaev, E.; Shilova, N.; Lebedev, I.; Fishman, V.
Show 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. This method enables the concurrent identification of SNVs in clinically relevant genes and SVs across the genome and allows analysis of heterozygous and mosaic carriers. Enhanced with targeted long-read sequencing, Exo-C evolves into a cost-efficient solution capable of resolving complex SVs at base-pair accuracy. Through several case studies, we demonstrate how Exo-Cs multifaceted application can effectively uncover diverse causative variants and elucidate disease mechanisms in patients with rare disorders.
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