Fixation Effects on Variant Calling in a Clinical Resequencing Panel.

A new interesting article has been published in J Mol Diagn. 2019 Jul;21(4):705-717. doi: 10.1016/j.jmoldx.2019.03.005. Epub 2019 May 2. and titled:

Fixation Effects on Variant Calling in a Clinical Resequencing Panel.

Authors of this article are:

Parker JDK, Yap SQ, Starks E, Slind J, Swanson L, Docking TR, Fuller M, Zhou C, Walker B, Filipenko D, Xiong W, Karimuddin AA, Phang PT, Raval M, Brown CJ, Karsan A.

A summary of the article is shown below:

Formalin fixation is the standard method for the preservation of tissue for diagnostic purposes, including pathologic review and molecular assays. However, this method is known to cause artifacts that can affect the accuracy of molecular genetic test results. We assessed the applicability of alternative fixatives to determine whether these perform significantly better on next-generation sequencing assays, and whether adequate morphology is retained for primary diagnosis, in a prospective study using a clinical-grade, laboratory-developed targeted resequencing assay. Several parameters relating to sequencing quality and variant calling were examined and quantified in tumor and normal colon epithelial tissues. We identified an alternative fixative that suppresses many formalin-related artifacts while retaining adequate morphology for pathologic review.Copyright © 2019 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

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