#27 · Single-cell
Learned and accelerated methods now operate directly on raw reads and pileups
The dominant thread is computation applied to primary sequencing data, with explicit attention to throughput and memory. SomatiX applies deep learning to allele-aware pileups from matched tumor-normal long-read DNA and is reported to outperform DeepSomatic. scRM pretrains a single-cell foundation model directly on scRNA-seq reads rather than count matrices and is reported as competitive. flashscenic accelerates SCENIC GRN inference on GPU, reporting 12-27x speedups over pySCENIC with r=0.9996 equivalence. brisc runs a multithreaded CPU workflow on 10M cells in 3 minutes and is reproducible across thread counts. The arXiv workload characterization profiles WGA, long-read, and short-read mapping tools with VTune and DAMOV-SIM, identifying memory-bound functions and cache behavior. What is new is the shift toward raw-read and pileup inputs combined with systems-level measurement at scale. The items share methodological and systems concerns rather than a single biological question.
Published papers
SomatiX: accurate and efficient somatic SNV detection from matched tumor-normal long-read DNA sequencing.
SomatiX, a deep-learning method using allele-aware pileups, detects somatic SNVs from matched tumor-normal long-read DNA data, outperforming DeepSomatic and…
Preprints
In-depth data movement characterization of DNA read mapping algorithms
Workload characterization of WGA, long-read, and short-read DNA mapping tools using VTune and DAMOV-SIM, identifying memory-bound functions and cache…
scRM: A single-cell foundation model trained on scRNA-seq reads
scRM is a single-cell foundation model pretrained directly on scRNA-seq sequencing reads rather than count matrices, reported as competitive at lower…
flashscenic: Accelerated GRN Analysis with RegDiffusion for Large-Scale Single-Cell Data
flashscenic: GPU-accelerated SCENIC GRN inference, 12-27x faster than pySCENIC with r=0.9996 equivalence; benchmarks consensus strategies and TF-activity batch…
brisc: a multithreaded CPU toolkit for single-cell analysis
brisc is a multithreaded CPU toolkit for single-cell RNA-seq analysis, reproducible across thread counts, running a workflow on 10M cells in 3 minutes on a…
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