#24 · Single-cell
Validated transcriptomics methods extend detection of fusions, ncRNAs, and biomarkers
The dominant thread is explicit validation of measurement and analysis steps in transcriptomics. Flexify-designed probes detect oncogenic gene fusions in scRNA-seq, validated in MCF7 cells and paediatric B-ALL cohorts. dropTotal co-detects coding and non-coding transcripts in about 75,000 glioma nuclei to build a single-cell whole-transcriptome regulatory atlas. A long-read isoform atlas of 14 nasopharyngeal carcinoma tumors reveals novel splicing and fusions, with the TS-SNAD framework predicting neojunction-derived neoantigens. The alignment-last approach compares reads across cohorts through a reference-free k-mer index (merome) to support transcriptomic biomarker discovery. What is new is the expansion of validated scope: total RNA capture of non-coding species, fusion detection at single-cell resolution, and reference-free cross-cohort comparison. Each claim rests on a specific dataset, and the items share a methodological emphasis rather than a single platform or assay.
Published papers
Long-read sequencing reveals widespread novel splicing and neojunction-derived neoantigens in nasopharyngeal carcinoma.
Long-read isoform atlas of 14 nasopharyngeal carcinoma tumors reveals novel splicing and fusions, plus TS-SNAD framework predicting neojunction-derived…
Preprints
Decoding the Transcriptome Dark Matter: Construction of Single-Cell Whole-Transcriptome Regulatory Atlas by dropTotal
dropTotal: a droplet-based total RNA-seq method co-detecting coding and non-coding transcripts in single cells, applied to ~75,000 glioma nuclei to build ncRNA…
Closing the fusion-detection gap in single-cell RNA-seq with a scalable, probe-based workflow
Flexify-designed probes enable scRNA-seq detection of oncogenic gene fusions, validated in MCF7 cells and paediatric B-ALL cohorts.
An alignment-last approach enables rapid transcriptomic biomarker discovery in large cohorts
Proposes an alignment-last transcriptomics paradigm that compares reads across cohorts via a reference-free k-mer index (merome), recovering biomarkers and…
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