Whole-genome sequencing-based association studies to study the role of low-frequency and rare variants in haematological development and cardiovascular diseases.

Study code

Lead researcher
Professor Nicole Soranzo

Study type
Samples and data

Institution or company
Wellcome Trust Sanger Institute

Researcher type

Speciality area
Cardiovascular Disease, Metabolic and Endocrine Disorders

Recruitment Site


The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes.

Although many hundreds of genes that are involved in causing disease have already been identified, it is believed that many more remain to be discovered. The UK10K project aims to help uncover them by studying the genetic code of 10,000 people in much finer detail than ever before.

Participation: 9000 samples from the Cambridge BioResource were used to replicate discovering from the UK10K project.
Organisation: This study was organised by Dr Nicole Soranzo from the Department of Haematology at the Univesity of Cambridge.