Gwynn Matthias

Mar 11, 2024 | onlinelibrary.wiley.com | Jenny Byrne |Corinne De Lord |Gwynn Matthias

INTRODUCTION Next-generation targeted sequencing (NGS) is an established diagnostic tool for haematological malignancies. NGS is performed by aligning the sequenced reads to the genome reference sequence and reporting discovered differences. One limitation of this approach is the inherent heterogeneity of germline genetics, which results in the inability to unambiguously determine whether any differences detected between tumour and reference are germline or somatic in origin.

Mar 11, 2024 | pericles.pericles-prod.literatumonline.com | Jenny Byrne |Corinne De Lord |Gwynn Matthias

INTRODUCTION Next-generation targeted sequencing (NGS) is an established diagnostic tool for haematological malignancies. NGS is performed by aligning the sequenced reads to the genome reference sequence and reporting discovered differences. One limitation of this approach is the inherent heterogeneity of germline genetics, which results in the inability to unambiguously determine whether any differences detected between tumour and reference are germline or somatic in origin.