Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care.

Source: Journal of Molecular Diagnostics - November 14, 2017 Category: Pathology Authors: Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S. Kip, Eric W. Klee, Stephen E. Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn L. Temple-Smolkin, Karl V. Voelkerding, Chen Wang, Alexis B. Carter Tags: Special article Source Type: research