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

Crossref DOI link: https://doi.org/10.1186/s13073-025-01471-3

Published Online: 2025-05-07

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Gridina, Maria https://orcid.org/0000-0002-7972-5949
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
Funding

Funding for this research was provided by:

Russian Science Foundation (21-65-00017)
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Text and Data Mining valid from 2025-05-07

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Article History

Received: 4 May 2024

Accepted: 10 April 2025

First Online: 7 May 2025

Declarations

:

: The recruitment of the cohort in this study was conducted in strict accordance with the principles of the Declaration of Helsinki and the International Conference on Harmonization Good Clinical Practice (ICH-GCP) guidelines. The study was approved by the local ethics committee of the Institute of Cytology and Genetics (protocol number 17, 16.12.2022) and the local ethics committee of the Tomsk National Research Medical Center (protocol number 15, 28.02.2023). Informed Consent was obtained from all patients or their parents/representatives included in the study.

: Written informed consent for publications was obtained from all patients or their parents/representatives for all materials included in the study. The consent permits the publication of clinical information while explicitly prohibiting the disclosure of personal identifiers, including participant names and raw (unprocessed) genomic sequencing data, in accordance with Russian legislation on personal data protection.

: The authors declare no competing interests.

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