Yue Hao

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

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.

This study shows that iron deficiency in glioblastoma tumors affects immune interactions differently in males and females.

This study shows that telomere dysfunction in human astrocytes leads to acrocentric chromosome instability and nucleolar reorganization through a combination of cytogenetic, imaging, and chromatin-contact analyses.

The paper identifies a genetic variant in Daphnia pulex that suppresses recombination, leading to the emergence of a mixed-mating system with both genetic and environmental sex determination.

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

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.

The paper presents diploid genome assemblies for two human fibroblast cell lines, enabling clone-specific variant calling, improved read mapping, and accurate phasing.

The paper confirms a two-step hybridization model for the formation of hexaploidy in Brassiceae and shows subgenomes have distinct loss rates but functionally compatible genes.

clustifyr assigns cell types to scRNA-seq clusters using diverse reference data and provides tools for exploratory analysis.