Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, Cancer Genomics and Diagnostics, and Genomics and Rare Diseases.
Complex genetic variation in nearly complete human genomes
The Somatic Mosaicism across Human Tissues Network
Author Correction: Complex genetic variation in nearly complete human genomes
Complex genetic variation in nearly complete human genomes
Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Comprehensive identification of somatic nucleotide variants in human brain tissue
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants
A robust benchmark for detection of germline large deletions and insertions
Comprehensive identification of somatic nucleotide variants in human brain tissue
<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
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy
An integrated map of structural variation in 2,504 human genomes
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration