Top 40
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Tools & infrastructure
Nanopore and short-read tools for microbial typing, methylation and variant detection
Recent preprints and one published suite pair typing, variant and QC analysis with direct benchmarks against established microbial genomics methods.
ML / AI methods
Fused learned representations drive prediction across protein, RNA, and molecular tasks
Recent preprints and papers pair learned embeddings with fusion architectures and new benchmarks for protein, RNA, and molecular prediction.
Tools & infrastructure
Long-read tools quantify somatic mosaicism and repeat variation in human genomes
Recent preprints extend long-read and repeat-aware tools to somatic mosaicism at HTT repeats and across structural and small variants.
Genomics
Pangenomes and orthogonal evidence layers refine eukaryotic gene and variant calls
Large T2T-level assemblies and pangenomes now pair with mass spectrometry and deep learning to link genome structure with trait and variant effects.
Single-cell
Computational methods recover structure from sparse, noisy transcriptomic measurements
A 30-dataset benchmark finds traditional scRNA-seq imputation often outperforms deep learning approaches.