Comparison of VCFs Generated from Different Software in the Evaluation of Variants in Genes Responsible for Rare Thrombophilic Conditions

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F23%3A10158266" target="_blank" >RIV/00098892:_____/23:10158266 - isvavai.cz</a>
Result on the web
<a href="https://link.springer.com/chapter/10.1007/978-3-031-34960-7_32" target="_blank" >https://link.springer.com/chapter/10.1007/978-3-031-34960-7_32</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/978-3-031-34960-7_32" target="_blank" >10.1007/978-3-031-34960-7_32</a>

Result language
angličtina
Original language name
Comparison of VCFs Generated from Different Software in the Evaluation of Variants in Genes Responsible for Rare Thrombophilic Conditions
Original language description
As part of the inplementation and validation of an optimal diagnostic approach based on high-throughput sequencing by Ion Torrent platform in the diagnosis of the rare trombophilic conditions of protein S (PS), protein C (PC) and antithrombin (AT) deficiency, we compared data from three different software tools – Torrent Suite, Ion Reporter and NextGene – to compare their performance and accuracy in the analysis of each sequence variant detected. A cohort of 31 patients was selected for PS (7), PC (13) and AT (11) deficiency based on defined indication criteria. Within these patient groups, a mutation detection rate of 67,7% was observed. In a cohort of 10 patients who were sequenced in a single sequencing run the three evaluated software detected 16, 19, and 27 variants in the PROS1 gen; 17,17, 19 variants in the PROC gene; and 15, 15, 16 variants for the SERPINC1 gene in their baseline settings. For data generated from the Ion Torrent platform, software from the same provider seems to be more suitable, mainly because of the quality of the false positive filtering. For further evaluation of the validity of the software used, it will be necessary to expand the cohort of patient examined.
Czech name
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Czech description
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Type
D - Article in proceedings
CEP classification
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OECD FORD branch
20602 - Medical laboratory technology (including laboratory samples analysis; diagnostic technologies) (Biomaterials to be 2.9 [physical characteristics of living material as related to medical implants, devices, sensors])

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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