Area of research
Molecular Biology · Plant Science
Research interest
Research interests include Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations, Cancer Genomics and Diagnostics, and Genomics and Rare Diseases.
Using the linear references from the pangenome to discover missing autism variants
Human de novo mutation rates from a four-generation pedigree reference
Leveraging a phased pangenome for haplotype design of hybrid potato
The Platinum Pedigree: a long-read benchmark for genetic variants
A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats
The complete sequence of a human Y chromosome
Pangenome graph construction from genome alignments with Minigraph-Cactus
Increased mutation and gene conversion within human segmental duplications
A super-pangenome of the North American wild grape species
Pangenome graphs in infectious disease: a comprehensive genetic variation analysis of Neisseria meningitidis leveraging Oxford Nanopore long reads
The complete sequence of a human genome
The Human Pangenome Project: a global resource to map genomic diversity
Semi-automated assembly of high-quality diploid human reference genomes
Towards complete and error-free genome assemblies of all vertebrate species
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
A diploid assembly-based benchmark for variants in the major histocompatibility complex
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Computational Pan-Genomics: Status, Promises and Challenges
An integrated map of structural variation in 2,504 human genomes
SpeedSeq: ultra-fast personal genome analysis and interpretation
MOSAIK: A Hash-Based Algorithm for Accurate Next-Generation Sequencing Short-Read Mapping
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics