Area of research
Genetics · Plant Science
Research interest
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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
Author Correction: Complex genetic variation in nearly complete human genomes
The complete sequence and comparative analysis of ape sex chromosomes
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
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
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
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
Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts
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
Glucose metabolic profiles evaluated by PET associated with molecular characteristic landscape of gastric cancer
29 Sanghavi K , Feero WG , Mathews DJH , Prince AER , Price LL , Liu ET , Brothers KB , Roberts JS , Lee C . Employees' Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing . Front Genet . 2021; 12:643304
— 2021cited by 0position: selected
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
<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
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
A global reference for human genetic variation
An integrated map of structural variation in 2,504 human genomes
Genomic portrait of resectable hepatocellular carcinomas: Implications of <i>RB1</i> and <i>FGF19</i> aberrations for patient stratification
Diverse Mechanisms of Somatic Structural Variations in Human Cancer Genomes
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence