She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium,[5] which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.

They use large-scale genome sequencing data, epigenetic profiling and molecular traits such as gene expression and metabolomics.

[8] The National Institute for Health Research (NIHR) Blood and Transplant Research Units (BTRU) Genetics Theme, led by Soranzo, was motivated by a need of the National Health Service (NHS) Blood and Transplant Unit to move towards a more personalised service.

Results are expected to contribute to understanding of how individual genetic profiles affect disease risk and treatment in the population at large, informing the implementation of personalised medicine strategies in the UK.

[9] Soranzo chaired the UK10K Cohorts project,[10] one of the first to use whole-genome sequencing to investigate the role of rare genetic variants and the Human Variation working group of the EU FP7 Blueprint project,[11] an international effort to characterise the interplay of genetic and epigenetic factors on gene expression in three main immune cell types.