bioRxiv Science⌕ Search

Biology subjects

Seufert, I.

Publications and source records attributed to Seufert, I..

3 recordsLinked to original sources

Disagreement between demultiplexing methods reveals structured cell quality gradients in multiplexed single-cell data

BackgroundSingle-cell multi-omics profiling of hematopoietic malignancies frequently involves pooling of patient samples before library preparation to reduce costs. Demultiplexing and quality control of the resulting sequencing data depend on experimental design, sequencing depth, and computational methods. Existing approaches benchmark individual tools, auto-select a single best method, or apply majority voting. However, none systematically exploit disagreement patterns among orthogonal strategies as a diagnostic signal for cell quality. ResultsWe introduce Split-flow, a modular Nextflow pipeline that runs hashing-based and SNP-based demultiplexing, and transcriptome-based doublet detection in parallel. It classifies cells into quality strata through a concordance-based decision framework. Validation on multiplexed CITE-seq data from 14 multiple myeloma patients across eight Chromium channels demonstrates high reproducibility and shows that discordant cells cluster within specific cell types and quality strata. TCR clonotype cross-referencing against VDJdb confirms that concordance-based classification enriches for biologically genuine immune receptor sequences, with a 5.3-fold enrichment of confirmed public TCR sequences in the high-confidence stratum. Downsampling analysis reveals that SNP-based methods are more depth-sensitive than hash-based approaches, supporting the recommendation to combine both strategies. The framework transfers to AML samples across three assay types (snMultiome-seq, scRNA-seq, scATAC-seq), where ATAC-based demultiplexing resolves donor assignment discordance under low hashing efficiency. ConclusionsSplit-flow demonstrates that combining of orthogonal preprocessing methods yields structured information about cell quality and offers a concordance-based framework that transforms this disagreement into a diagnostic signal. It introduces a preprocessing approach that can be exploited beyond hematopoietic malignancies in multiplexed single-cell applications. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=114 SRC="FIGDIR/small/724135v1_ufig1.gif" ALT="Figure 1"> View larger version (26K): org.highwire.dtl.DTLVardef@1f36dbcorg.highwire.dtl.DTLVardef@a9799forg.highwire.dtl.DTLVardef@6fca94org.highwire.dtl.DTLVardef@15cc1f3_HPS_FORMAT_FIGEXP M_FIG C_FIG Highlights and main findingsO_LIIntroduces Split-flow, a modular Nextflow DSL2 pipeline for preprocessing of multiplexed single-cell multi-omics sequencing data from hematopoietic malignancy samples via a post hoc concordance-based decision framework. C_LIO_LIProvides practical guidance for the experimental design of multiplexed single-cell multi-omics experiments, including the recommendation to combine antibody-based hashing with a SNP genotype reference for orthogonal demultiplexing. C_LIO_LIReveals that SNP-based demultiplexing is more sensitive to sequencing depth than hash-based approaches, and that the combined strategy mitigates depth-dependent biases in cell-type recovery. C_LIO_LIDemonstrates that disagreement between demultiplexing methods contains structured diagnostic information about cell quality, with concordance categories reflecting genuine quality gradients in multiple myeloma CITE-seq samples. C_LIO_LIValidates the concordance framework using T cell receptor sequences as an orthogonal biological readout, with a 5.3-fold enrichment of confirmed public TCR sequences in the high-confidence stratum. C_LIO_LIApplies the preprocessing framework to AML patient samples across three assay types (snMultiome-seq, scRNA-seq, and scATAC-seq) and demonstrates that ATAC-based demultiplexing can resolve donor-assignment discordance. C_LI

bioinformatics↗

Two distinct chromatin modules regulate proinflammatory gene expression

Various mechanisms have been proposed to explain gene activation and co-regulation, including enhancer-promoter interactions via chromatin looping and the enrichment of transcription factors into hubs or condensates. However, these conclusions often stem from analyses of individual loci, and genome-wide studies exploring mechanistic differences with coupled gene expression are lacking. In this study, we dissected the proinflammatory gene expression program induced by TNF in primary human endothelial cells using NGS- and imaging-based techniques. Our findings, enabled by our novel RWireX approach for single-cell ATAC-seq analysis, revealed two distinct regulatory chromatin modules: autonomous links of co-accessibility (ACs) between separated sites, and domains of contiguous co-accessibility (DCs) with increased local transcription factor binding. Genes in ACs and DCs exhibited different transcriptional bursting kinetics, highlighting the existence of two structurally and functionally distinct regulatory chromatin modules in the proinflammatory response. These findings provide a novel mechanistic framework for understanding how cells achieve rapid and precise gene expression control. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=71 SRC="FIGDIR/small/606159v1_ufig1.gif" ALT="Figure 1"> View larger version (30K): org.highwire.dtl.DTLVardef@1f5f7e8org.highwire.dtl.DTLVardef@166b4d7org.highwire.dtl.DTLVardef@1ea9206org.highwire.dtl.DTLVardef@118d534_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LITwo distinct, non-mutually exclusive chromatin modules, ACs and DCs, that regulate proinflammatory gene expression were identified based on deep scATAC-seq. C_LIO_LIACs represent long-range genomic interactions with regulation occurring more by transcription burst frequency. C_LIO_LIDCs are regions of increased local transcription factor binding that can modulate transcription burst size. C_LIO_LIThe AC/DC model integrates sequencing-based evidence for chromatin looping with microscopy observations of transcription factor hubs/condensates into a unified model. C_LIO_LIOur findings provide a novel framework for understanding how cells achieve rapid and precise gene expression control. C_LI

genomics↗

Enhancing sensitivity and versatility of Tn5 based single cell omics

The analysis of chromatin features in single cells centers around Tn5 transposase and exploits its activity to simultaneously fragment target DNA and integrate adapter sequences of choice. This reaction provides a direct readout in the assay for transposase-accessible chromatin in single cells (scATAC-seq) to map open chromatin regions. However, a current limitation is the sparse coverage of open chromatin loci that are detected in a given single cell by droplet-based methods. Thus, enhancing Tn5 activity to improve genomic coverage of scATAC-seq or facilitating multi-omics readouts of chromatin features via Tn5 together with the transcriptome is of great interest. Here, we address these issues by optimizing scATAC-seq for an increased number of integrations per cell. In addition, we provide a protocol that combines mapping of histone modification with scRNA-seq from the same cell by targeting Tn5 to antibody-bound chromatin epitopes. Our experimental workflows improve the results obtained from the downstream data analysis and serve to better resolve epigenetic heterogeneity and transcription regulation in single cells.

molecular biology↗