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."
Key publications
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Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.
Journal article
Pei Y. et al, (2025), Genome Med, 17
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Over-transmission of NF1 mutant alleles in Neurofibromatosis type 1
Preprint
Pei Y. et al, (2025)
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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 (Basel), 15
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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, 23, 2360 - 2368
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Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Journal article
Pei Y. et al, (2019), Eur J Med Genet, 62
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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
Conference paper
Moore R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 600 - 601
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Characterising clinically relevant complex structural variants in craniosynostosis using long-range technologies
Conference paper
Pei Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 37 - 37
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Novel mechanism of craniosynostosis associated with chromosome 4q21 duplication: modelling in mice and iPSCs
Conference paper
Korona D. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 533 - 533
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ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Conference paper
Watts L. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 73 - 74
Recent publications
-
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.
Journal article
Pei Y. et al, (2025), Genome Med, 17
-
Over-transmission of NF1 mutant alleles in Neurofibromatosis type 1
Preprint
Pei Y. et al, (2025)
-
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 (Basel), 15
-
Characterising clinically relevant complex structural variants in craniosynostosis using long-range technologies
Conference paper
Pei Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 37 - 37
-
Novel mechanism of craniosynostosis associated with chromosome 4q21 duplication: modelling in mice and iPSCs
Conference paper
Korona D. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 533 - 533
-
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100,000 Genomes Project
Conference paper
Moore R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 600 - 601
-
ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Conference paper
Watts L. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 73 - 74
-
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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Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations.
Conference paper
(2022), Eur J Hum Genet, 30, 3 - 87
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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, 23, 2360 - 2368
-
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Journal article
Pei Y. et al, (2019), Eur J Med Genet, 62