Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing

Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing

Variant annotation is an important step in deciphering the functional impact of genomic variants and their association with diseases. In this study, we analyzed 80 pan-cancer cases that underwent comprehensive genomic testing and compared the auto-classified variant tiers among four globally-availab...

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Bibliographic Details
Main Authors: Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, Anthony Magliocco
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Journal of Molecular Pathology
Subjects:
next generation sequencing (NGS)
genomic analysis
variant annotation
bioinformatics
tier classification
tertiary analysis software
Online Access:https://www.mdpi.com/2673-5261/5/1/6

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https://www.mdpi.com/2673-5261/5/1/6

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