Shuo Cao

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

The Vertebrate Genomes Project Phase I provides high-quality reference genomes for 816 species, enabling evolutionary and conservation insights across vertebrates.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

This study reveals how UBE3C reprograms the proteasome to degrade ultra-stable protein folds by bypassing USP14 and enhancing substrate unfolding.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

This study presents haplotype-resolved genome assemblies for two Munage grapevine cultivars, identifies genes associated with fruit color traits, and highlights adaptive selection in ancient grapevines.

This study identifies the polygenic basis of seedlessness in grapevines using integrative genomics, revealing key genes and a machine learning model with 99% prediction accuracy.

This study identifies a TRA2A/LINC00662/ELK4 axis that regulates BBB permeability in Alzheimer's disease by affecting ELK4 mRNA stability.