TransPrise: a novel machine learning approach for eukaryotic promoter prediction

por Pachganov, Stepan, Murtazalieva, Khalimat, Zarubin, Aleksei, Sokolov, Dmitry, Chartier, Duane R., Tatarinova, Tatiana V.
Publicado 2019

Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin

por Gervas, Polina, Molokov, Aleksey, Babyshkina, Nataliya, Kiselev, Artem, Zarubin, Aleksei, Yumov, Evgeny, Pisareva, Lubov, Choynzonov, Evgeny, Cherdyntseva, Nadezda
Publicado 2022

Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy

por Salakhov, Ramil R., Golubenko, Maria V., Valiakhmetov, Nail R., Pavlyukova, Elena N., Zarubin, Aleksei A., Babushkina, Nadezhda P., Kucher, Aksana N., Sleptcov, Aleksei A., Nazarenko, Maria S.
Publicado 2022

Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy

por Zarubin, Aleksei, Stepanov, Vadim, Markov, Anton, Kolesnikov, Nikita, Marusin, Andrey, Khitrinskaya, Irina, Swarovskaya, Maria, Litvinov, Sergey, Ekomasova, Natalia, Dzhaubermezov, Murat, Maksimova, Nadezhda, Sukhomyasova, Aitalina, Shtygasheva, Olga, Khusnutdinova, Elza, Radzhabov, Magomed, Kharkov, Vladimir
Publicado 2020

Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI

por Zhalsanova, Irina Zh., Postrigan, Anna Evgenievna, Valiakhmetov, Nail Raushanovich, Kolesnikov, Nikita Aleksandrovich, Zhigalina, Daria Ivanovna, Zarubin, Aleksei Andreevich, Petrova, Valeria Viktorovna, Minaycheva, Larisa Ivanovna, Seitova, Gulnara Narimanovna, Skryabin, Nikolay Alekseevich, Stepanov, Vadim Anatolevich
Publicado 2023

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION

por Nazarenko, Maria S., Sleptcov, Aleksei A., Zarubin, Aleksei A., Salakhov, Ramil R., Shevchenko, Alexander I., Tmoyan, Narek A., Elisaphenko, Eugeny A., Zubkova, Ekaterina S., Zheltysheva, Nina V., Ezhov, Marat V., Kukharchuk, Valery V., Parfyonova, Yelena V., Zakian, Suren M., Zakharova, Irina S.
Publicado 2023

46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

por Kashevarova, Anna A., Nikitina, Tatyana V., Mikhailik, Larisa I., Belyaeva, Elena O., Vasilyev, Stanislav A., Lopatkina, Mariya E., Fedotov, Dmitry A., Fonova, Elizaveta A., Zarubin, Aleksei A., Sivtsev, Aleksei A., Skryabin, Nikolay A., Nazarenko, Lyudmila P., Lebedev, Igor N.
Publicado 2020