Contact information
Research groups
Yang Pei
MSci, MPhil, DPhil
Postdoctoral Bioinformatician
I am a bioinformatician working with Prof. Goriely on "selfish" mutations and triplet repeat expansion. My projects focus on analysing ultra-deep short/long read sequencing data aiming to identify ultra-low level mutations in germline tissues.
Previously, I was a DPhil Medical Sciences student supervised by Prof. Andrew Wilkie and Prof. Stephen Twigg. My research involved characterising structural variants (SVs) in patients with craniosynostosis using various genomic and molecular approaches, including Illumina/Nanopore whole genome sequencing and Bionano optical genome mapping.
I also hold an MPhil in Genomic Medicine from the University of Cambridge and an MSci in Biochemistry from the University of Manchester. My previous research projects include "Characterising germline variants in renal cell carcinoma using whole genome sequencing" and "Identifying the causative genes in Melkersson-Rosenthal syndrome through whole exome sequencing."
Recent publications
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A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
Journal article
Pei Y. et al, (2024), Genes, 15, 925 - 925
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Journal article
Moore AR. et al, (2023), J Med Genet, 60, 1235 - 1244
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Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Conference paper
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Journal article
Hyder Z. et al, (2021), Genet Med
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Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome
Journal article
Pei Y. et al, (2019), European Journal of Medical Genetics, 62, 103536 - 103536