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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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Principais autores: Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, Anthony Magliocco
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-03-01
coleção:Journal of Molecular Pathology
Assuntos:
next generation sequencing (NGS)
genomic analysis
variant annotation
bioinformatics
tier classification
tertiary analysis software
Acesso em linha:https://www.mdpi.com/2673-5261/5/1/6
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