Nanopore sequencing project

Study code

Lead researcher
Professor Willem Ouwehand

Study type
Data only

Institution or company
University of Cambridge

Researcher type

Speciality area
Genomics and Rare Diseases, Haematology


The main goal of this research is to identify genetic varients that are associated with rare diseases using long read whole genome sequencing. Long-read sequencing is a form of next-generation sequencing (NGS) that has technical advantages over short-read sequencing for the detection of specific types of genetic variation. We aim to identify variants associated with the disease that cannot be detected by other NGS technologies.