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Bioinformatics Analyst

Bioinformatics Analyst

Matthieu Miossec

PhD


Bioinformatics analyst @ Bioinformatics Core

Bioinformatics Core

Member of the 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

Recent publications

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