Identified disease causal genes using Whole-exome sequencing (WES) data in Tourette Syndrome (TS) project.
Conducted a rare copy number variation study using WES data from the TS project.
Identified disease gene for Lysosomal storage disease (LSD) project.
Assessed the neuronal ceroid lipofuscinosis (NCL) disease causal allele frequency at the population level using ExAC database.
Conducted a detection analysis on mobile elements associated with expression quantitative trait loci (eQTL) using published 1000 Genomes and GEUVADIS data.
Conducted a detection analysis on novel mobile elements insertion using GTEx (The Genotype-Tissue Expression Project) Whole Genome Sequencing (WGS) data.
Used mobile elements insertion analysis to identify genomic regions for gene therapy.
Studied tissue specific expression quantitative trait loci (eQTL) associated with novel mobile elements insertion/deletion events in human genome using GTEx WGS data.
Worked on harmonizing genome sequencing analysis pipelines across different large-scale human genetics sequencing projects.
Email: leafiezyt AT gmail dot com