Matches in SemOpenAlex for { <https://semopenalex.org/work/W3016539280> ?p ?o ?g. }
- W3016539280 abstract "Abstract Advances in whole genome sequencing promise to enable the accurate and comprehensive structural variant (SV) discovery. Dissecting SVs from whole genome sequencing (WGS) data presents a substantial number of challenges and a plethora of SV-detection methods have been developed. Currently, there is a paucity of evidence which investigators can use to select appropriate SV-detection tools. In this paper, we evaluated the performance of SV-detection tools using a comprehensive PCR-confirmed gold standard set of SVs. In contrast to the previous benchmarking studies, our gold standard dataset included a complete set of SVs allowing us to report both precision and sensitivity rates of SV-detection methods. Our study investigates the ability of the methods to detect deletions, thus providing an optimistic estimate of SV detection performance, as the SV-detection methods that fail to detect deletions are likely to miss more complex SVs. We found that SV-detection tools varied widely in their performance, with several methods providing a good balance between sensitivity and precision. Additionally, we have determined the SV callers best suited for low and ultra-low pass sequencing data." @default.
- W3016539280 created "2020-04-24" @default.
- W3016539280 creator A5009368988 @default.
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- W3016539280 date "2020-04-18" @default.
- W3016539280 modified "2023-10-01" @default.
- W3016539280 title "A comprehensive benchmarking of WGS-based structural variant callers" @default.
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