Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

Authors: Evgeniia M. Maksiutenko, Valeriia Merkureva, Yury A. Barbitoff, Victoria V. Tsay, Mikhail V. Aseev, Andrey S. Glotov, Oleg S. Glotov

Source: Physiological Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)

Subject Terms: exome sequencing, high altitude adaptation, hypoxia, mountaineering, pathogenic variant, Physiology, QP1-981

File Description: electronic resource

Relation: https://doaj.org/toc/2051-817X

Access URL: https://doaj.org/article/1d731a852f9f4c87b42004487ddc58a9

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Authors: Yury A. Barbitoff, Ruslan Abasov, Varvara E. Tvorogova, Andrey S. Glotov, Alexander V. Predeus

Source: BMC Genomics, Vol 23, Iss 1, Pp 1-17 (2022)

Subject Terms: Whole genome sequencing, Whole exome sequencing, Variant calling, Pipeline, Benchmark, Performance comparison, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/e14da3cefc3c451384b518989335e414

bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets

Authors: Anton I. Changalidis, Dmitry A. Alexeev, Yulia A. Nasykhova, Andrey S. Glotov, Yury A. Barbitoff

Source: Biology, Vol 13, Iss 1, p 10 (2023)

Subject Terms: GWAS, SNP, simulation, pathway analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2079-7737/13/1/10; https://doaj.org/toc/2079-7737

Access URL: https://doaj.org/article/960649c6dcf74db282842fe030ece2b0

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review

Authors: Mariia E. Turkunova, Yury A. Barbitoff, Elena A. Serebryakova, Dmitrii E. Polev, Olga S. Berseneva, Elena B. Bashnina, Vladislav S. Baranov, Oleg S. Glotov, Andrey S. Glotov

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: Floating Harbor syndrome, SRCAP, growth hormone therapy, short stature, whole-exome sequencing, facial dysmorphisms, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.846101/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/315a146fb9c64f6f8b773c8657802a5f

Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [PSI+] Cells

Authors: Andrew G. Matveenko, Varvara E. Ryzhkova, Natalia A. Zaytseva, Lavrentii G. Danilov, Anastasia S. Mikhailichenko, Yury A. Barbitoff, Galina A. Zhouravleva

Source: Biology, Vol 11, Iss 12, p 1688 (2022)

Subject Terms: yeast, prion, [PSI+], Sup35, GFP, RFP, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2079-7737/11/12/1688; https://doaj.org/toc/2079-7737

Access URL: https://doaj.org/article/bcd39ea1105141d08c98e7edd430e2c1

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

Authors: Anton E. Shikov, Yury A. Barbitoff, Andrey S. Glotov, Maria M. Danilova, Ziravard N. Tonyan, Yulia A. Nasykhova, Anastasia A. Mikhailova, Olesya N. Bespalova, Roman S. Kalinin, Azizahon M. Mirzorustamova, Igor Yu Kogan, Vladislav S. Baranov, Alexander N. Chernov, Dragana M. Pavlovich, Sergey V. Azarenko, Mikhail A. Fedyakov, Victoria V. Tsay, Yuri A. Eismont, Olga V. Romanova, Dmitry N. Hobotnikov, Dmitry A. Vologzhanin, Sergei V. Mosenko, Tatiana A. Ponomareva, Yana A. Talts, Anna U. Anisenkova, Dmitrii G. Lisovets, Andrey M. Sarana, Stanislav P. Urazov, Sergey G. Scherbak, Oleg S. Glotov

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: COVID-19, ACE2, mutations, eQTL, gnomAD, whole-exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.551220/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/033c35b44e6c41b8a23ac91d88de78ad

Differential Interactions of Molecular Chaperones and Yeast Prions

Authors: Yury A. Barbitoff, Andrew G. Matveenko, Galina A. Zhouravleva

Source: Journal of Fungi, Vol 8, Iss 2, p 122 (2022)

Subject Terms: yeast prion, Sis1, chaperone, prion propagation, protein quality control, Hsp104, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2309-608X/8/2/122; https://doaj.org/toc/2309-608X

Access URL: https://doaj.org/article/74d8ee8e051a4a78a5107a2ece785837

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia

Authors: Yury A. Barbitoff, Rostislav K. Skitchenko, Olga I. Poleshchuk, Anton E. Shikov, Elena A. Serebryakova, Yulia A. Nasykhova, Dmitrii E. Polev, Anna R. Shuvalova, Irina V. Shcherbakova, Mikhail A. Fedyakov, Oleg S. Glotov, Andrey S. Glotov, Alexander V. Predeus

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

Subject Terms: allele frequency, Mendelian disease, Russia, whole‐exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/8047bdd641c54668bc1ab8afc74830ac

Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage

Authors: Yury A Barbitoff, Andrew G Matveenko, Anton B Matiiv, Evgeniia M Maksiutenko, Svetlana E Moskalenko, Polina B Drozdova, Dmitrii E Polev, Alexandra Y Beliavskaia, Lavrentii G Danilov, Alexander V Predeus, Galina A Zhouravleva

Source: G3: Genes, Genomes, Genetics, Vol 11, Iss 4 (2021)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2160-1836

Access URL: https://doaj.org/article/c8004d2182874ee2948cf97d233921ba