Human Geneticist × Bioinformatician | PhD student at the Department of Clinical Neurosciences & MRC MBU | Taiwan Cambridge Scholar
Biography
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University of Cambridge
PhD Clinical Neurosciences
2024 - 2028
Project: 'Searching for novel genetic mechanisms underlying mitochondrial disease'
- Awardee of the Taiwan Cambridge Scholarship (fully-funded PhD)
- Extended development of a multiomic rare disease variant prioritisation toolbox
- Diagnosis of unsolved mitochondrial disease cases and discovery of novel pathogenic mechanisms -
University of Cambridge
MPhil Medical Science (Clinical Neurosciences)
2023 - 2024
Project: 'In-depth screening for pathogenic variants in human mitochondrial disease'
- Genetic diagnosis of unsolved mitochondrial disease cases by in-depth in silico analysis of WGS data
- Developed and applied a rare disease variant prioritisation pipeline
- Discovery of novel nuclear disease genes and mitochondrial disease-causing variants
- Member of Neurology domain, Genomics England Research Network -
The University of Manchester
MSc Bioinformatics and Systems Biology
2022 - 2023
Project 1: ‘Functional characterisation of cherubism granulomas using single cell RNA-seq’
- Analysis of scRNA-seq data from human cherubism granulomas
- Usage of Seurat pipeline followed by downstream functional enrichment analyses, performed in RProject 2: ‘Capacity and limitations of computational RNA-seq analysis’
- Analysis of multiple bulk RNA-seq datasets in R using DESeq2 pipeline with custom adjustments (e.g., GeneGini™) -
Imperial College London
MSc Human Molecular Genetics
2020 - 2021
Project: ‘Searching for pathogenic non-coding mutations in autosomal recessive mitochondrial disease’
- Established in silico pipeline to identify candidate pathogenic non-coding variants in autosomal recessive mitochondrial disease using proband whole genome sequencing (WGS) data.
- Member of Neurology domain as part of the Genomics England Clinical Interpretation Partnership (GeCIP) from the 100,000 Genomes Project -
University of Cambridge
BA (Hons) Preclinical Medical Sciences
2016 - 2019
Preclinical Medical Sciences (Year 1-3) & Biological and Biomedical Sciences (Year 3; intercalated)
Intercalated year major subject: Genetics
Intercalated year minor subject: Bioinformatics
Dissertation: ‘Aneuploidy and Cancer: Lessons so far’
(MA conferred May 2023)
Teaching and Supervisions
2024/2025:
- Core Statistics using R or Python - Trainer
- Introduction to R - Trainer
