ALLSTAR: Inference of ReliAble CausaL RuLes between Somatic MuTAtions and CanceR Phenotypes.

ABSTRACT:

Motivation

Recent advances in DNA sequencing technologies have allowed the detailed characterization of genomes in large cohorts of tumors, highlighting their extreme heterogeneity, with no two tumors sharing the same complement of somatic mutations. Such heterogeneity hinders our ability to identify somatic mutations important for the disease, including mutations that determine clinically relevant phenotypes (e.g., cancer subtypes). Several tools have been developed to identify somatic mutations related to cancer phenotypes. However, such tools identify correlations between somatic mutations and cancer phenotypes, with no guarantee of highlighting causal relations.

Results

We describe ALLSTAR, a novel tool to infer reliable causal relations between somatic mutations and can

SUBMITTER: Simionato D 

PROVIDER: S-EPMC11520414 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature