Organocatalyst treatment improves variant calling and mutant detection in archival clinical samples

Most archived biological tissue samples are preserved in formalin. Formalin fixation of biological samples damages nucleic acids and limits their use in future genomic analyses. Improved tools are needed to increase nucleic acid yield, reduce artifacts, and facilitate analysis and interpretation of genomic data, specifically from formalin-fixed samples. This publication in Nature Scientific Reports describes a study that evaluated whether chemical and heat treatment improves DNA-sequencing data of formalin-fixed samples. Researchers from HESI’s Emerging Systems Toxicology for the Assessment of Risk (eSTAR) Committee found that organocatalyst (2-amino-5-methylphenyl phosphonic acid) treatment with extended heat incubation can improve DNA Exosome-sequencing data quality of formalin-fixed paraffin-embedded tissue samples. Implications of these finding have important applications in translational science and precision medicine. With further optimization, conducting genomic analysis on archived tissue samples will be more achievable.

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Organocatalyst treatment improves variant calling and mutant detection in archival clinical samples.
Leah C. Wehmas, Charles E. Wood, Ping Guan, Mark Gosink & Susan D. Hester. Scientific Reports. 20 April, 2022

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