Area of research
Genetics · Plant Science
Research interest
Research interests include Chromosomal and Genetic Variations, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
A family portrait of the genomic factors shaping tandem repeat mutagenesis
Complete sequencing of ape genomes
Human de novo mutation rates from a four-generation pedigree reference
Complex genetic variation in nearly complete human genomes
Structural polymorphism and diversity of human segmental duplications
Conservation of dichromatin organization along regional centromeres
The Platinum Pedigree: a long-read benchmark for genetic variants
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery
Author Correction: Complex genetic variation in nearly complete human genomes
Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination
The variation and evolution of complete human centromeres
The complete sequence and comparative analysis of ape sex chromosomes
Structurally divergent and recurrently mutated regions of primate genomes
Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
Complex genetic variation in nearly complete human genomes
Complete sequencing of ape genomes
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B
A draft human pangenome reference
The complete sequence of a human Y chromosome
Pangenome graph construction from genome alignments with Minigraph-Cactus
Recombination between heterologous human acrocentric chromosomes
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
Segmental duplications and their variation in a complete human genome
Familial long-read sequencing increases yield of de novo mutations
Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
The structure, function and evolution of a complete human chromosome 8
Targeted long-read sequencing identifies missing disease-causing variation