Head of Computational Genomics Group
Contact information
Websites
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Computational Genomics Group
Official page for the Computational Genomics Group
Matthieu Miossec
PhD
Head of Computational Genomics Group
- Head of CGG since March 2024
- Prev. Senior Bioinformatician and acting Deputy Manager
- MSc module lead for Genomic Medicine
Computational Genomics Group
Member of the (f. Wellcome) Centre's Bioinformatics Core since September 2020 with a full decade of bioinformatics and programming experience which encompasses whole-exome sequencing (particularly in relation to congenital heart disease), metagenomics and a recent growing amount of RNA sequencing. Happy to help with all your bioinformatics and Python-related queries in your language of choice: English, French or Spanish. I also provide teaching and training in whole exome/genome sequencing topics, Python and WDL, with plans to expand into machine learning.
I have some recent experience performing genomics in the cloud, using Google Cloud and the Broad Institute's genomics platform Terra. I have adopted the platform's workflow language of choice, WDL, for both cloud and HPC work. In 2018, I collaborated with the GATK dev team on a case study based on previous PhD/RA work which can be found here: reproducibility case study on Terra (see also chapter 14 of Genomics in the Cloud by Geraldine Van der Auwera & Brian O'Connor).
I am currently exploring metabolomics and machine learning. Happy to start receiving questions about either.
BACKGROUND
I earned a BSc in Computer Science from Durham University and an MSc in Bioinformatics and Computational Systems Biology from the University of Newcastle-Upon-Tyne. With support from the British Heart Foundation, I formally entered the field of genomic medicine in 2012, working at the Institute of Genetic Medicine in Newcastle, where I earned my PhD in 2016. My main focus was uncovering rare genetic variants predisposing to congenital heart diseases, such as Tetralogy of Fallot, using whole-exome sequencing data. After briefly working as a research associate at the Institute, I moved to Chile and joined the Centre for Bioinformatics and Integrative Biology (CBIB) where I delved into the world of metagenomics. During this time, I developed a growing passion for machine learning and gained a MOOC certificate on the subject.
Key publications
Cardiomyocyte tetrahydrobiopterin synthesis regulates fatty acid metabolism and susceptibility to ischaemia–reperfusion injury
Journal article
Chu SM. et al, (2023), Experimental Physiology, 108, 874 - 890
Mitotic DNA synthesis is caused by transcription-replication conflicts in BRCA2-deficient cells
Journal article
Groelly FJ. et al, (2022), Molecular Cell, 82, 3382 - 3397.e7
Evaluation of computational methods for human microbiome analysis using simulated data
Journal article
Miossec MJ. et al, (2020), PeerJ, 8, e9688 - e9688
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
Journal article
Page DJ. et al, (2019), Circulation Research, 124, 553 - 563
Computational Methods for Human Microbiome Analysis
Journal article
Miossec MJ. et al, (2017), Current Protocols in Microbiology, 47
Recent publications
GeneFEAST: the pivotal, gene-centric step in functional enrichment analysis interpretation
Journal article
Taylor A. et al, (2025), Bioinformatics, 41
Spatial analysis of rhesus macaque lung tissue shows a key role for vaccination or previous SARS-CoV-2 challenge in immune pulmonary status
Conference paper
Gartlan C. et al, (2024), EUROPEAN JOURNAL OF IMMUNOLOGY, 54, 1424 - 1424
GeneFEAST: the pivotal, gene-centric step in functional enrichment analysis interpretation
Preprint
Taylor A. et al, (2023)
Identification of grapevine clones via high-throughput amplicon sequencing: a proof-of-concept study.
Journal article
Urra C. et al, (2023), G3 (Bethesda, Md.), 13
Cardiomyocyte tetrahydrobiopterin synthesis regulates fatty acid metabolism and susceptibility to ischaemia–reperfusion injury
Journal article
Chu SM. et al, (2023), Experimental Physiology, 108, 874 - 890