Fig. 1: Single-cell multiomic characterization of hepatoblastoma.

a Principal component analysis (PCA) of 100 HB with bulk RNA-seq data. Tumors are colored according to their molecular group as assigned by Hirsch et al.⁵. Black circles indicate the 6 representative HB samples selected for single-cell Multiome and whole genome sequencing (WGS) in this study. b Main clinical and molecular annotations of the 6 HB samples. c Uniform manifold approximation and projection (UMAP) of all cells from the 6 HB based on their snATAC-seq (left) and snRNA-seq (right) profiles, annotated by sample of origin (top) or cell type (bottom). d Projection of 11p15 copy-neutral LOH on the snRNA-seq UMAP. We used germline SNPs to identify in single cells the cnLOH events detected in WGS data (see Methods). We also computed a B Allele Frequency (BAF) at the sample level corresponding to the proportion of paternal alleles in the LOH region over all cells. A BAF of 50% is expected in absence of LOH. e Projection of CTNNB1 mutations on the snRNA-seq UMAP. Mutations identified in WGS were detected in single cells using scReadCounts (see Methods). Only mutations detected in ≥3 cells are shown for each sample. f Virtual copy-number alteration (CNA) profiles discriminate tumor and non-tumor cells, cluster cells by sample of origin and reveal intra-sample heterogeneity. g Proportion of tumor and non-tumor cell types in each sample. The molecular group of the matched bulk RNA-seq sample is indicated below. Source data are provided in the Source Data file.