Vinci Au

Serval is a modular framework for decoding spatial transcriptomics data that introduces Cosine, a method improving transcript recovery and correlation with expression references.

This paper develops a framework to analyze chromosomal mutational patterns at single-cell resolution, revealing drug-induced mutational signatures in human tissues.

cfClone, a Bayesian model, deconvolves cfDNA whole-genome sequencing using scWGS-derived haplotype-specific clone copy-number profiles to estimate tumour fraction, clonal prevalence, and flag missed clones.

This study shows that somatic copy number mutations (CNA) influence metastatic fitness in breast cancer by mediating transcriptional changes and affecting clone survival in different sites.

The paper analyzes copy number alterations in breast epithelial cells from BRCA mutation carriers and wildtype individuals, finding lineage-specific CNAs that mirror cancer genomes.

The paper adapts peel-1 negative selection to CRISPR-Cas9 genome editing in C. elegans, enabling automated screening-free generation and phenotyping of genome-edited animals.

The paper develops an optimized CRISPR/Cas9 protocol for generating deletions in C. elegans, demonstrating high efficiency and minimal off-target effects.

This paper uses CRISPR-Cas9 in C. elegans to replace human genes and assess their function, showing it can classify disease variants accurately.

The paper introduces MIP-MAP, a method to map temperature-sensitive mutations in C. elegans using molecular inversion probes, achieving high-resolution genetic mapping with high-throughput sequencing.

The paper uses a whole-genome sequenced multi-mutation C. elegans library with SKAT to identify genes associated with ciliated sensory neuron defects, uncovering novel genes like BGNT-1.1 linked to human ciliopathies.