Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

Abstract 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 (...

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Main Authors: Maria Gridina, Timofey Lagunov, Polina Belokopytova, Nikita Torgunakov, Miroslav Nuriddinov, Artem Nurislamov, Lyudmila P. Nazarenko, Anna A. Kashevarova, Maria E. Lopatkina, Stanislav Vasilyev, Andrey Zuev, Elena O. Belyaeva, Olga A. Salyukova, Aleksandr D. Cheremnykh, Natalia N. Sukhanova, Marina E. Minzhenkova, Zhanna G. Markova, Nina A. Demina, Yana Stepanchuk, Anna Khabarova, Alexandra Yan, Emil Valeev, Galina Koksharova, Elena V. Grigor’eva, Natalia Kokh, Tatiana Lukjanova, Yulia Maximova, Elizaveta Musatova, Elena Shabanova, Andrey Kechin, Evgeniy Khrapov, Uliana Boyarskih, Oxana Ryzhkova, Maria Suntsova, Alina Matrosova, Mikhail Karoli, Andrey Manakhov, Maxim Filipenko, Evgeny Rogaev, Nadezhda V. Shilova, Igor N. Lebedev, Veniamin Fishman
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Medicine
Online Access:https://doi.org/10.1186/s13073-025-01471-3
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