CACTUS

CACTUS is a software tool that enhances our understanding of tumor heterogeneity by facilitating the accurate mapping of single cells to their respective tumor clones based on genotype-to-phenotype relationships. This probabilistic model is mainly designed to address the complexities of tumors like follicular lymphoma, characterized by the continuous acquisition of mutations in both the exome and B cell receptor loci. By leveraging these mutations as independent sources of evidence, CACTUS aims to refine our understanding of clonal evolution within tumors.

The core methodology of CACTUS involves integrating various independent genomic measurements, such as whole exome sequencing, single-cell RNA sequencing, and B-cell receptor sequencing data, to probabilistically assign single cells to predefined tumor clones with imperfect genotypes. This integration is crucial in follicular lymphoma research, where mutations are acquired both in the exome and the context of the B cell receptor, providing a unique opportunity to cross-reference these sources for a more accurate depiction of tumor clone composition.

The ability of CACTUS to increase model certainty through the integration of independent measurements underscores the potential of this approach to advance the field of cancer genomics significantly. CACTUS represents a valuable tool for researchers aiming to decipher the functional implications of tumor heterogeneity by offering a more nuanced and accurate mapping of genotype-to-phenotype relationships in tumors.