معرفی
Yang Pei is a Postdoctoral Bioinformatician at the University of Oxford's Institute of Molecular Medicine, working with Prof. Goriely on 'selfish' mutations and triplet repeat expansion. Projects focus on analyzing ultra-deep short/long read sequencing data to identify ultra-low level mutations in germline tissues.
- PhD in Medical Sciences from University of Oxford (supervised by Prof. Andrew Wilkie and Prof. Stephen Twigg)
- MPhil in Genomic Medicine from University of Cambridge
- MSci in Biochemistry from University of Manchester
Research interests include structural variant characterization, genomic sequencing applications, and bioinformatics analysis of rare genetic diseases. Key areas span craniosynostosis, Melkersson-Rosenthal Syndrome, and renal cell carcinoma genetics.
Recent publications highlight expertise in structural variant calling, optical genome mapping, and genomic diagnostics for rare diseases. Articles cover years 2019–2024, with methodologies involving Illumina/Nanopore sequencing and Bionano optical mapping.
Current affiliation: Goriely Group in clinical genetics. No scientific awards or student advising details are listed.
