Author

Elena S. Shabanova

Research Institute of Obstetrics and Gynecology named after D.O. OttORCID 0000-0002-8701-2754Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra YaniD· 1 shared Alina A. MatrosovaiD· 1 shared Andrey Dmitrievich ManakhoviD· 1 shared Anna A. KhabarovaiD· 1 shared Artem R. NurislamoviD· 1 shared Elena O. BelyaevaiD· 1 shared Elena V. Grigor’evaiD· 1 shared Elizaveta V. MusatovaiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alexandra YanORCID

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1 paper

Recent·Most cited

A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing

Maria M. Gridina, Timofey A. Lagunov, Polina S. Belokopytova, Nikita Torgunakov, Miroslav Nuriddinov, Artem R. Nurislamov, Л. П. Назаренко, А. А. Кашеварова, М. Е. Лопаткина, Elena O. Belyaeva, Olga A. Salyukova, А. Д. Черемных, Natalia N. Sukhanova, Миньженкова Марина Евгеньевна, Маркова Жанна Геннадьевна, , Veniamin Fishman

This paper introduces a method combining exome sequencing and chromosome conformation capture to detect both SNVs and SVs, demonstrating its effectiveness in identifying causative variants in rare disorders.

bioRxiv · Jan 26, 2024 · PreprintGenomics