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

• Main Authors: Roy Khalife (Author), Tara M. Love (Author), Lara Sucheston-Campbell (Author), Michael J. Clark (Author), Helle Sorensen (Author), Shuba Krishna (Author), Anthony Magliocco (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...