Area of research
Molecular Biology · Genetics
Research interest
Research interests include Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Complex genetic variation in nearly complete human genomes
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants
<i>De novo</i> assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Human-specific tandem repeat expansion and differential gene expression during primate evolution
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence
The oyster genome reveals stress adaptation and complexity of shell formation