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Soto Gomez, M.

Publications and source records attributed to Soto Gomez, M..

2 recordsLinked to original sources

gpps: An ILP-based approach for inferringcancer progression with mutation losses fromsingle cell data

MotivationIn recent years, the well-known Infinite Sites Assumption (ISA) has been a fundamental feature of computational methods devised for reconstructing tumor phylogenies and inferring cancer progression where mutations are accumulated through histories. However, some recent studies leveraging Single Cell Sequencing (SCS) techniques have shown evidence of mutation losses in several tumor samples [19], making the inference problem harder.\n\nResultsWe present a new tool, gpps, that reconstructs a tumor phylogeny from single cell data, allowing each mutation to be lost at most a fixed number of times.\n\nAvailabilityThe General Parsimony Phylogeny from Single cell (gpps) tool is open source and available at https://github.com/AlgoLab/gppf.

cancer biology

Inferring Cancer Progression from Single Cell Sequencing while allowing loss of mutations

MotivationIn recent years, the well-known Infinite Sites Assumption (ISA) has been a fundamental feature of computational methods devised for reconstructing tumor phylogenies and inferring cancer progressions seen as an accumulation of mutations. However, recent studies (Kuipers et al., 2017) leveraging Single-cell Sequencing (SCS) techniques have shown evidence of the widespread recurrence and, especially, loss of mutations in several tumor samples. Still, established methods that can infer phylogenies with mutation losses are however lacking.\n\nResultsWe present the SASC (Simulated Annealing Single-Cell inference) tool which is a new and robust approach based on simulated annealing for the inference of cancer progression from SCS data. More precisely, we introduce a simple extension of the model of evolution where mutations are only accumulated, by allowing also a limited amount of back mutations in the evolutionary history of the tumor: the Dollo-k model. We demonstrate that SASC achieves high levels of accuracy when tested on both simulated and real data sets and in comparison with some other available methods.\n\nAvailabilityThe Simulated Annealing Single-cell inference (SASC) tool is open source and available at https://github.com/sciccolella/sasc.\n\nContacts.ciccolella@campus.unimib.it

bioinformatics