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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, Anthony Magliocco
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	MDPI AG 2024-03-01
Σειρά:	Journal of Molecular Pathology
Θέματα:	next generation sequencing (NGS) genomic analysis variant annotation bioinformatics tier classification tertiary analysis software
Διαθέσιμο Online:	https://www.mdpi.com/2673-5261/5/1/6
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