MQuad enables clonal substructure discovery using single cell mitochondrial variants

• DOI: 10.1038/s41467-022-28845-0
• Publication Date: 2022-03-08T11:06:27Z
• Authors: Aaron Wing Cheung...; Chen Qiao; Rongting Huang; Mai-Har Sham; Joshua W. K. Ho; Yuanhua Huang
• Keywords: Single cell sequencing; Single-Cell Analysis

Abstract Mitochondrial mutations are increasingly recognised as informative endogenous genetic markers that can be used to reconstruct cellular clonal structure using single-cell RNA or DNA sequencing data. However, identifying mtDNA variants in noisy and sparse data is still challenging with few computation methods available. Here we present an open source computational tool MQuad accurately calls clonally a population of single cells, analysis suite for complete clonality inference, based on cell RNA, ATAC Through variety simulated experimental data, showed identify mitochondrial both high sensitivity specificity, outperforming existing by large extent. Furthermore, demonstrate its wide applicability different protocols, particularly complementing single-nucleotide copy-number variations extract finer resolution.