Using artificial intelligence (AI) to model clinical variant reporting for next generation sequencing (NGS) oncology assays

Abstract Background Targeted next generation sequencing (NGS) of somatic DNA is now routinely used for diagnostic and predictive reporting in the oncology clinic. The expert genomic analysis required for NGS assays remains a bottleneck to scaling the volume of patients being assessed. This study har...

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Detalhes bibliográficos

Principais autores:	Kenneth D. Doig, Rashindrie Perera, Yamuna Kankanige, Andrew Fellowes, Jason Li, Richard Lupat, Ella R. Thompson, Piers Blombery, Stephen B. Fox
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-10-01
coleção:	BioData Mining
Assuntos:	Targeted sequencing Clinical diagnostics Variant calling Somatic mutations Cancer genomics Precision oncology
Acesso em linha:	https://doi.org/10.1186/s13040-025-00489-y
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