SHUGAY, Mikhail, A.R. ZARETSKY, D.A. SHAGIN, I.A. SHAGINA, I.A. VOLCHENKOV, A.A. SHELENKOV, Mikhail LEBEDIN, D.V. BAGAEV, S. LUKYANOV and Dmitriy CHUDAKOV. MAGERI: Computational pipeline for molecular-barcoded targeted resequencing. PLoS Computational Biology. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2017, vol. 13, No 5, p. nestránkováno, 17 pp. ISSN 1553-734X. Available from: https://dx.doi.org/10.1371/journal.pcbi.1005480.
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Basic information
Original name MAGERI: Computational pipeline for molecular-barcoded targeted resequencing
Authors SHUGAY, Mikhail (643 Russian Federation, belonging to the institution), A.R. ZARETSKY (643 Russian Federation), D.A. SHAGIN (643 Russian Federation), I.A. SHAGINA (643 Russian Federation), I.A. VOLCHENKOV (643 Russian Federation), A.A. SHELENKOV (643 Russian Federation), Mikhail LEBEDIN (643 Russian Federation, belonging to the institution), D.V. BAGAEV (643 Russian Federation), S. LUKYANOV (643 Russian Federation) and Dmitriy CHUDAKOV (643 Russian Federation, guarantor, belonging to the institution).
Edition PLoS Computational Biology, SAN FRANCISCO, PUBLIC LIBRARY SCIENCE, 2017, 1553-734X.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10609 Biochemical research methods
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 3.955
RIV identification code RIV/00216224:14740/17:00100339
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1371/journal.pcbi.1005480
UT WoS 000402889500008
Keywords in English CIRCULATING TUMOR DNA; THERAPEUTIC RESPONSE; IMMUNE REPERTOIRES; COLORECTAL-CANCER; SOMATIC MUTATION; SEQUENCING ERROR; RARE MUTATIONS; SOLID TUMORS; GENOME; PLASMA
Tags OA, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 13/3/2018 14:07.
Abstract
Unique molecular identifiers (UMIs) show outstanding performance in targeted high-throughput resequencing, being the most promising approach for the accurate identification of rare variants in complex DNA samples. This approach has application in multiple areas, including cancer diagnostics, thus demanding dedicated software and algorithms. Here we introduce MAGERI, a computational pipeline that efficiently handles all caveats of UMI-based analysis to obtain high-fidelity mutation profiles and call ultra-rare variants. Using an extensive set of benchmark datasets including gold-standard biological samples with known variant frequencies, cell-free DNA from tumor patient blood samples and publicly available UMI-encoded datasets we demonstrate that our method is both robust and efficient in calling rare variants. The versatility of our software is supported by accurate results obtained for both tumor DNA and viral RNA samples in datasets prepared using three different UMI-based protocols.
Links
LQ1601, research and development projectName: CEITEC 2020 (Acronym: CEITEC2020)
Investor: Ministry of Education, Youth and Sports of the CR
633592, interní kód MUName: APERIM - Advanced bioinformatics platform for PERsonalised cancer IMmunotherapy (Acronym: APERIM)
Investor: European Union, APERIM - Advanced bioinformatics platform for PERsonalised cancer IMmunotherapy, Health, demographic change and wellbeing (Societal Challenges)
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