Reliability of algorithmic somatic copy number alteration detection from targeted capture data | Zendy

Nora Rieber | Zendy; Regina Bohnert | Zendy; Ulrike Ziehm | Zendy; Gunther Jansen | Zendy

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Reliability of algorithmic somatic copy number alteration detection from targeted capture data

Author(s) -

Nora Rieber,

Regina Bohnert,

Ulrike Ziehm,

Gunther Jansen

Publication year - 2017

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btx284

Subject(s) - false positive paradox , exome , sensitivity (control systems) , computational biology , exome sequencing , computer science , data mining , biology , genetics , gene , mutation , artificial intelligence , electronic engineering , engineering

Whole exome and gene panel sequencing are increasingly used for oncological diagnostics. To investigate the accuracy of SCNA detection algorithms on simulated and clinical tumor samples, the precision and sensitivity of four SCNA callers were measured using 50 simulated whole exome and 50 simulated targeted gene panel datasets, and using 119 TCGA tumor samples for which SNP array data were available.

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