Area of research
Genetics · Plant Science
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Phylogenetic Studies, and Genomics and Rare Diseases.
Evaluating genome assemblies with HMM-Flagger
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.
Using the linear references from the pangenome to discover missing autism variants.
A family portrait of the genomic factors shaping tandem repeat mutagenesis
Evaluating genome assemblies with HMM-Flagger
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA
Epigenetic and evolutionary features of ape subterminal heterochromatin.
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.
A Complete Genome for the Common Marmoset
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences
A segmental duplication-mediated deletion leads to neocentromere formation in orangutans
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
A massively parallel reporter assay of
<i>MECP2</i>
cis-regulatory elements reveals genetic candidates for male-biased autism
Rapid centromere turnover and the adaptive radiation of lemurs
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Distinct mechanisms of CNV formation at the human 15q13.3 locus
<i>NPEPPS</i>
segmental duplication drives position effect expression of
<i>TBC1D3</i>
in the human brain
Complete sequencing of ape genomes.
Human de novo mutation rates from a four-generation pedigree reference
Complex genetic variation in nearly complete human genomes
Human de novo mutation rates from a four-generation pedigree reference.
Complex genetic variation in nearly complete human genomes.
The Somatic Mosaicism across Human Tissues Network
The Somatic Mosaicism across Human Tissues Network
Structural polymorphism and diversity of human segmental duplications
Structural polymorphism and diversity of human segmental duplications.
SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies
Integrated analysis of the complete sequence of a macaque genome
A complete diploid human genome benchmark for personalized genomics