Article
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.
Human mutation - 1 Dec 2016
Laurie Steve, Fernandez-Callejo Marcos, Marco-Sola Santiago, Trotta Jean-Remi, Camps Jordi, Chacón Alejandro, Espinosa Antonio, Gut Marta, Gut Ivo, Heath Simon, Beltran Sergi
Abstract excerpt
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost-performance ratio is not advancing at an equivalent rate. Therefore, it is essential to evaluate the robustness of the variant detection process taking into account the computing resources required. We have benchmarked...
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