#1 · Epigenomics
Isoform-resolved single-cell and single-molecule methods quantify transcript variants
Across the items, the dominant thread is resolving RNA and protein abundance at the level of individual isoforms, start sites, or molecules rather than gene totals. A single-cell long-read RNA-seq atlas of glioblastoma prioritizes tumor-restricted isoforms and reports 6524 unannotated ones, while scATS corrects RNA degradation bias in 5' scRNA-seq to quantify alternative transcription start sites per cell. PAQu estimates protein isoform abundances under ambiguous peptide mapping by integrating peptidome and transcriptome data, and sm-PORE-cupine resolves RNA structure ensembles on single molecules via direct nanopore sequencing. The remaining items, covering foundation models, augmentation, housekeeping normalization, and surface protein imputation, address transcriptomic modeling more broadly and do not share this isoform-level focus. What is new relative to prior interpretation is the emphasis on isoform and start-site resolution as the unit of readout.
Published papers
scEvoSel maps evolutionary selection signals onto single-cell transcriptomic atlases to reveal selection-relevant cellular contexts.
scEvoSel integrates population selection signals (DCMS scores) with scRNA-seq atlases to identify selection-relevant cell types in pig and chicken tissues.
Chromosome-scale genome assembly and annotation of Octodon degus.
Chromosome-level HiFi and Hi-C assembly and annotation of the degu (Octodon degus), with improved contiguity, gene annotation, and a reproducible pipeline for…
Preprints
Dissecting functional elements in giant genomes using the first generation of high quality salamander assemblies
Generates a high-quality haplotype assembly of the 32 Gb axolotl genome and uses multi-genome alignment to identify >523,000 conserved non-coding elements in…
Characterisation of cis-regulatory elements and genome wide enhancer prediction in Heliconiini butterflies
Re-analysis of Heliconius wing ATAC-seq and histone ChIP data builds a cis-regulatory atlas and a CNN enhancer predictor (AUROC 0.909) applied across 34…
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