%0 Journal Article
%T Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists
%A Alexis B. Carter
%A Annette Leon
%A Arivarasan Karunamurthy
%A Chen Wang
%A Christopher Coldren
%A Eric W. Klee
%A Karl V. Voelkerding
%A Mrudula Pullambhatla
%A Nefize S. Kip
%A Robyn L. Temple-Smolkin
%A Somak Roy
%A Stephen E. Lincoln
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2017.11.003
%X 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.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30373-2/fulltext