Protean Presents Research Utilizing NGS at AMP 2023
Protean publishes research in collaboration with Roche on the topic of utilizing NGS across multiple variant annotation solutions.
Authors:
Roy Khalife, Lara Sucheston-Campbell, Helle Sorensen, Shuba Krishna, Amin Gholami, Michael Clark, Tara Love, Anthony Magliocco
Introduction:
Variant annotation is a critical step in deciphering the functional impact of genetic variants With the emergence of numerous next generation sequencing ( technologies, many variant annotator software tools have become available to aid in the interpretation of genomic variants, for both germline and somatic applications. However, the differences in variant classification assignments across these tools remain largely unexplored and these differences can have a significant impact on the interpretation of genetic variants and downstream management In this study, we analyzed and compared the variant tier classification differences among four commonly used variant annotator software tools for the interpretation of variants identified from tumor testing navify® Mutation Profiler navify® MP Research Use Only ( in the US not for diagnostic procedures Roche) ǂ SOPHIA DDM TM (RUO in the US Sophia Genetics), QIAGEN® Clinical Insight ( Interpret (RUO QIAGEN), and Franklin Genoox a free, publicly available annotator (see software version #’s in Fig C) By examining the differences in variant tier assignments and the underlying criteria employed by these software tools, we aim to show the nuances of somatic variant interpretation and offer potential reasons for tier classification differences across the solutions, which, in turn, may help researchers select the most appropriate tertiary analysis software solution for their specific needs.
For further information, please contact:
Anthony Magliocco MD
CEO & President of Protean BioDiagnostics
Email: info@proteanbiodx.com
Phone: 1 (813) 817 2042
About Protean BioDiagnostics
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