TOSCA: an automated Tumor Only Somatic CAlling workflow for somatic mutation detection without matched normal samples.

ABSTRACT:

Motivation

Accurate classification of somatic variants in a tumor sample is often accomplished by utilizing a paired normal tissue sample from the same patient to enable the separation of private germline mutations from somatic variants. However, a paired normal sample is not always available, making a reliable somatic variant calling more challenging. In silico screening of variants against public or private databases and other filtering approaches are often used in absence of a paired normal sample. Nevertheless, difficulties in performing a tumor-only calling with sufficient accuracy and lack of open-source software have limited their applications in clinical research.

Results

To address these limitations, we developed TOSCA, the first automated tumor-only somatic

SUBMITTER: Del Corvo M 

PROVIDER: S-EPMC9710689 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature