Dr Pavlos Antoniou | Principal Software Developer

Antoniou, Pavlos

I am a principal software developer/informatician for the Human Genetics Informatics group. I work closely with the faculty of Human Genetics to develop informatics solutions to analyse and visualise genomic data from population studies utilising current technologies. I enjoy creating user-friendly and interactive applications that contrinute to the presentation and analysis of biological data.

I am currently involved in developing software solutions to analyse genome-wide association studies datasets from two projects of the human genetics faculty. I am using hail, a python based data analysis tool that uses spark technologies to distribute the data on cloud clusters.

I have a background in genetics, computer science and bioinformatics and have worked as a cancer analyst for Genomics England but also as a lead clinical bioinformatician for the NHS. I am an HCPC registered clinical scientist and I have worked on diagnostic pipelines and clinical software development for many years. 

I believe that many questions can be answered when the data is presented in a coherent and interactive way therefore I am interested in developing web applications using  html, css and javascript with a focus on providing excellent user experience. Through my role in the Human Genetics Informatics Team I aim to develop web applications for the users of the human genetics faculty to visualise the results of their studies and interact with the scale and presentation of the data.  


  • The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

    Schwarze K, Buchanan J, Fermont JM, Dreau H, Tilley MW et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2019

  • Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

    Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2018;20;10;1196-1205

  • Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

    Schuh A, Dreau H, Knight SJL, Ridout K, Mizani T et al.

    Cold Spring Harbor molecular case studies 2018;4;2

  • Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.

    Keravnou A, Ioannides M, Tsangaras K, Loizides C, Hadjidaniel MD et al.

    Genetics research 2016;98;e15

  • Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing.

    Leontiou CA, Hadjidaniel MD, Mina P, Antoniou P, Ioannides M and Patsalis PC

    PloS one 2015;10;8;e0135058

  • Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

    Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P et al.

    BioMed research international 2013;2013;346762

  • A fast and efficient algorithm for mapping short sequences to a reference genome.

    Antoniou P, Iliopoulos CS, Mouchard L and Pissis SP

    Advances in experimental medicine and biology 2010;680;399-403

  • Algorithms for mapping short degenerate and weighted sequences to a reference genome.

    Antoniou P, Iliopoulos CS, Mouchard L and Pissis SP

    International journal of computational biology and drug design 2009;2;4;385-97

Antoniou, Pavlos
Pavlos's Timeline

Joined Human Genetics Informatics Group at Sanger Institute


NHS Addenbrookes' Hospital Cambridge - Lead Bioinformatician


Genomics England - Cancer Analyst

HCPC Clinical scientist registration


University of Oxford, John Radcliffe Hospital - High Throughput bioinformatician

MSc in Medical Genetics - Cyprus School of Molecular Genetics


Cyprus Institute of Neurology and Genetics - Bioinformatician


Postdoctoral Scientist at INRIA Rennes, France


PhD in Computer Science - King's College London


MSc in Bioinformatics - Cardiff University


BSc in Computer Science - University of Cyprus