Article
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.
Genome medicine - 7 May 2025
Gridina Maria, Lagunov Timofey, Belokopytova Polina, Torgunakov Nikita, Nuriddinov Miroslav, Nurislamov Artem, Nazarenko Lyudmila P, Kashevarova Anna A, Lopatkina Maria E, Vasilyev Stanislav, Zuev Andrey, Belyaeva Elena O, Salyukova Olga A, Cheremnykh Aleksandr D, Sukhanova Natalia N, Minzhenkova Marina E, Markova Zhanna G, Demina Nina A, Stepanchuk Yana, Khabarova Anna, Yan Alexandra, Valeev Emil, Koksharova Galina, Grigor'eva Elena V, Kokh Natalia, Lukjanova Tatiana, Maximova Yulia, Musatova Elizaveta, Shabanova Elena, Kechin Andrey, Khrapov Evgeniy, Boyarskih Uliana, Ryzhkova Oxana, Suntsova Maria, Matrosova Alina, Karoli Mikhail, Manakhov Andrey, Filipenko Maxim, Rogaev Evgeny, Shilova Nadezhda V, Lebedev Igor N, Fishman Veniamin
Abstract excerpt
BACKGROUND: 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). METHODS: We introduce a novel, integrative approach combining exome...
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