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.

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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

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

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

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article en
5 citations

Abstract

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.

Genome MedicineVol. 17(1)
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)
Russian Science Foundation
Zero hunger
Openalex Percentile: Top 6%
Genomics and Phylogenetic Studies
4.03
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