Litcius/Paper detail

CellPhy: accurate and fast probabilistic inference of single-cell phylogenies from scDNA-seq data

Alexey M. Kozlov, João M. Alves, Alexandros Stamatakis, David Posada

2022Genome biology82 citationsDOIOpen Access PDF

Abstract

We introduce CellPhy, a maximum likelihood framework for inferring phylogenetic trees from somatic single-cell single-nucleotide variants. CellPhy leverages a finite-site Markov genotype model with 16 diploid states and considers amplification error and allelic dropout. We implement CellPhy into RAxML-NG, a widely used phylogenetic inference package that provides statistical confidence measurements and scales well on large datasets with hundreds or thousands of cells. Comprehensive simulations suggest that CellPhy is more robust to single-cell genomics errors and outperforms state-of-the-art methods under realistic scenarios, both in accuracy and speed. CellPhy is freely available at https://github.com/amkozlov/cellphy .

Topics & Concepts

InferenceBiologyPhylogenetic treeComputational biologyProbabilistic logicGenomicsHidden Markov modelMarkov chainComputer scienceEvolutionary biologyGeneticsArtificial intelligenceMachine learningGenomeGeneSingle-cell and spatial transcriptomicsCancer Genomics and DiagnosticsGenomics and Phylogenetic Studies