Abstract Motivation Accurate detection of genetic variants, including single nucleotide polymorphisms (SNPs), small insertions and deletions (INDELs), and structural variants (SVs), is essential for comprehensive genomic analysis. While short-read sequencing performs well for SNP and INDEL detection, it remains limited...
Can Luo, Y. Liu, Han Liu et al.· Bioinformatics Advances· 0 citations
A comprehensive, context-specific guide to current annotation strategies for spatial transcriptomics is presented and open-set recognition of reference-absent cell states, adaptive incorporation of spatial context, and improved resolution of rare and transitional cell identities are identified as central priorities for...
Yu-Ling Zhu, Yunfei Hu, M. Xie et al.· Research Square· 0 citations
Single-cell DNA sequencing (scDNA-seq) resolves copy number variation (CNV) at single-cell resolution, revealing tumor heterogeneity and subclonal structure. Most existing methods, however, infer only total copy number. Haplotype-resolved copy number, which captures allelic imbalance and clonal evolution, remains far l...
Weiman Yuan, Can Luo, Yunfei Hu et al.· bioRxiv· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.