Institute of Genetic Medicine

Genomics, Statistics & Computational Biology

Genomics, Statistics and Computational Biology

We study how genetic variation impacts both rare diseases and complex traits.

Research

Our research can be summarised in two areas: understanding the effects of germline; and somatic variation.

Germline variation

  • Inferring causation using intermediate phenotypes
    • Causal analysis of genetic, phenotype and ‘omics data
    • Novel intermediate phenotypes e.g. circular RNAs and mutational signatures
  • Comprehensive identification of the variants involved in specific conditions, including types of variation whose identification is difficult or where associations to phenotype is challenging
    • Modelling the effects of multiple loci simultaneously, a particular interest is in the analysis of mitochondrial-nuclear genome interaction
    • Identification of rare highly penetrant variants and de-novo mutations.
    • Assessing the potential of novel genomic and computational approaches in variant detection and interpretation
    • Evaluating the contribution of selection and drift in shaping patterns of variation within individuals, and across cohorts and populations
    • Identification and characterisation of structural genomic variation

Somatic variation

  • De novo mutation and genomic instability
  • DNA stability, repair and de novo mutation
  • Identification of individuals with DNA repair deficiencies

Teaching

Members of the group teach on courses in the Faculty of Medical Sciences, with a major involvement in Master’s level teaching. 

Undergraduate:

Postgraduate:

Expertise

Principal investigatorArea of expertise
Prof Heather Cordell Statistical Genetics
Dr Joanna Elson Mitochondrial Genetics
Dr Gavin Hudson Mitochondrial and nuclear genomic analysis
Dr Michael Jackson Genomics and Transcriptomics.
Dr Mauro Santibanez-Koref Computational Genetics
Prof Joris Veltman Translational Genomics, Male Infertility Genomics
Dr Ian Wilson Population Genetics, Statistics in genomics

 

 

Staff

Dr Bilal Alobaidi
Research Technician

Email:

Professor Heather Cordell
Professor of Statistical Genetics

Email:
Telephone: +44 (0) 191 241 8669

Dr Rebecca Darlay
Research Associate

Email:
Telephone: +44 (0) 191 241 8692

Email:
Telephone: +44 191 241 8630

Email:

Dr Richard Howey
Research Associate

Email:
Telephone: +44 (0) 191 241 8692

Dr Gavin Hudson
Senior Lecturer

Email:
Telephone: +44 (0) 191 241 8650

Dr Michael Jackson
Senior Lecturer

Email:
Telephone: +44 (0) 191 241 8677

Kevin McEleny
Associate Clinical Lecturer

Email:
Telephone: +44 (0) 191 241 8693

Dr Harsh Sheth
Research Associate

Email:

Email:
Telephone: 0191 2418611

Dr Ian Wilson
Lecturer

Email:
Telephone: +44 (0) 191 241 8689

PhD Students

Meet our current PhD students.

StudentLead supervisor
Kumara Mastrorosa Prof Joris Veltman
Ludmila Volozonoka Prof Joris Veltman
Sidharth Maheshwari  
James Fryett Prof Heather Cordell
Richard Gallon Prof Sir John Burn
Hannah Lowes Dr Gavin Hudson
Jordan Marley Dr Gavin Hudson
Cara Thomas  

 

 

Contact

Do you want to find out more about Genomics, Statistics & Computational Biology?

Please contact theme representative Prof Joris Veltman.