Area of research
Cancer Research · Oncology
Research interest
Research interests include Cancer Genomics and Diagnostics, Pancreatic and Hepatic Oncology Research, Genomics and Phylogenetic Studies, and Genomics and Rare Diseases.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Personalized pangenome references
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
A draft human pangenome reference
Pangenome graph construction from genome alignments with Minigraph-Cactus
Recombination between heterologous human acrocentric chromosomes
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Increased mutation and gene conversion within human segmental duplications
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Personalized Pangenome References
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma
Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours
The human transcriptome across tissues and individuals
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases
The Genotype-Tissue Expression (GTEx) project