Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Cancer Genomics and Diagnostics, and Chromosomal and Genetic Variations.
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
Detection of mosaic and population-level structural variants with Sniffles2
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
The complete sequence of a human Y chromosome