Nanopore sequencing project
Study code
DAA005
Lead researcher
Professor Willem Ouwehand
Study type
Data only
Institution or company
University of Cambridge
Researcher type
Academic
Speciality area
Genomics and Rare Diseases, Haematology
Summary
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.