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Ticino Switzerland

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Benchmarking and improving the performance of variant-calling pipelines with RecallME

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By IRCCS Ospedale, De Summa, Pharmacogenetics Unit, Ticino Switzerland
| Bioinformatics
The steady increment of Whole Genome/Exome sequencing and the development of novel NGS-based gene panels requires continuous testing and validation of variant calling pipelines and the detection of sequencing-related issues to be maintained up-to-date and feasible for the clinical settings. State of the art tools are reliable when used to compute standard performance metrics.
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