Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants
Through several case studies, we demonstrate how Exo-C's multifaceted application can effectively uncover diverse causative variants and elucidate disease mechanisms in patients with rare disorders.
Authors
- А. А. Кашеварова (ORCID: https://orcid.org/0000-0002-0716-4302)
- А. Д. Черемных (ORCID: https://orcid.org/0000-0002-8144-8020)
- Anna Khabarova (ORCID: https://orcid.org/0000-0002-9425-9763)
- Galina Koksharova (ORCID: https://orcid.org/0000-0001-5664-492X)
- Н. В. Кох (ORCID: https://orcid.org/0000-0001-6374-1728)
- Andrey Kechin (ORCID: https://orcid.org/0000-0002-4822-0251)
- Н. Н. Суханова
- Nikita Torgunakov (ORCID: https://orcid.org/0000-0003-2493-0731)
- Andrey D. Manakhov (ORCID: https://orcid.org/0000-0002-5163-8747)
- Е. В. Григорьева (ORCID: https://orcid.org/0000-0002-9162-9108)
- Maria Gridina (ORCID: https://orcid.org/0000-0002-7972-5949)
- E. O. Belyaeva (ORCID: https://orcid.org/0000-0003-4956-5689)
- Miroslav Nuriddinov (ORCID: https://orcid.org/0000-0002-2417-8263)
- Elizaveta V. Musatova (ORCID: https://orcid.org/0000-0002-5604-2627)
- Veniamin Fishman (ORCID: https://orcid.org/0000-0002-5573-3100)
- И. Н. Лебедев (ORCID: https://orcid.org/0000-0002-0482-8046)
- Elena Shabanova (ORCID: https://orcid.org/0000-0002-8701-2754)
- Timofey Lagunov (ORCID: https://orcid.org/0000-0003-1966-5910)
- Polina Belokopytova (ORCID: https://orcid.org/0000-0003-1390-7341)
- Л. П. Назаренко (ORCID: https://orcid.org/0000-0002-1861-433X)
- М.Е. Миньженкова (ORCID: https://orcid.org/0000-0001-5458-0408)
- Alexandra Yan (ORCID: https://orcid.org/0000-0003-0305-0612)
- Е. И. Рогаев (ORCID: https://orcid.org/0000-0002-0351-8783)
- Andrey S. Zuev (ORCID: https://orcid.org/0000-0001-9474-9335)
- Alina Matrosova (ORCID: https://orcid.org/0009-0005-9875-4541)
- Artem R. Nurislamov (ORCID: https://orcid.org/0000-0002-0553-1316)
- М. Е. Лопаткина (ORCID: https://orcid.org/0000-0002-7051-3472)
- Olga A. Salyukova
- Е. А. Храпов (ORCID: https://orcid.org/0000-0003-0991-5349)
- Ж.Г. Маркова (ORCID: https://orcid.org/0000-0003-2941-2861)
- Nina Demina (ORCID: https://orcid.org/0000-0003-0724-9004)
- Maria Suntsova (ORCID: https://orcid.org/0000-0002-0280-4446)
- М. Л. Филипенко (ORCID: https://orcid.org/0000-0002-8950-5368)
- S. А. Vasilyev (ORCID: https://orcid.org/0000-0002-5301-070X)
- О. П. Рыжкова (ORCID: https://orcid.org/0000-0003-1285-9093)
- Yana Stepanchuk (ORCID: https://orcid.org/0000-0002-5971-1902)
- Tatiana Lukjanova
- Yulia Maximova
- Mikhail Karoli
- Н.В. Шилова (ORCID: https://orcid.org/0000-0002-0641-1084)
- Emil Valeev
- Uliana Boyarskih
Institutions
- UMass Memorial Health Care (US)
- Novosibirsk State Medical University (RU)
- University of Massachusetts Chan Medical School (US)
- Sechenov University (RU)
- Novosibirsk State University (RU)
- Endocrinology Research Center (RU)
- Institute of Chemical Biology and Fundamental Medicine (RU)
- Sirius University of Science and Technology (RU)
- Research Institute of Medical Genetics of Russian Academy of Medical Sciences (RU)
- Institute of Cytology and Genetics (RU)
- Tomsk National Research Medical Center (RU)
- Research Centre for Medical Genetics (RU)
- North-Western State Medical University named after I.I. Mechnikov (RU)
- UMass Memorial Medical Center (US)
- Center for Human Reproduction (US)
- Yandex (Russia) (RU)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-05-07
- DOI
- https://doi.org/10.1186/s13073-025-01471-3
- Citations
- 5
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 4.03
Funders
- Russian Science Foundation