A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing
Maria M. Gridina, Timofey A. Lagunov, Polina S. Belokopytova, Nikita Torgunakov, Miroslav Nuriddinov, Artem R. Nurislamov, Л. П. Назаренко, А. А. Кашеварова, М. Е. Лопаткина, Elena O. Belyaeva, Olga A. Salyukova, А. Д. Черемных, Natalia N. Sukhanova, Миньженкова Марина Евгеньевна, Маркова Жанна Геннадьевна, , Veniamin Fishman
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.
bioRxiv · Jan 26, 2024 · PreprintGenomics