Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Genetic Associations and Epidemiology, and Genomic variations and chromosomal abnormalities.
Complex genetic variation in nearly complete human genomes
Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling
Author Correction: Complex genetic variation in nearly complete human genomes
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma
Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state
Complex genetic variation in nearly complete human genomes
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
Beyond GWAS: Investigating Structural Variants and Their Segregation in Familial Alzheimer’s Disease
A comprehensive catalog of 3D genome organization in diverse human genomes facilitates understanding of the impact of structural variation on chromatin structure
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Familial long-read sequencing increases yield of de novo mutations
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology
System-wide transcriptome damage and tissue identity loss in COVID-19 patients
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants
Mapping and characterization of structural variation in 17,795 human genomes
Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium
Recent ultra-rare inherited mutations identify novel autism candidate risk genes
<i>De novo</i> assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
Sequencing and curation strategies for identifying candidate glioblastoma treatments
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
Genomic Patterns of De Novo Mutation in Simplex Autism