Analysis of Structural Variants in 15,370 Individuals from the NIHR BioResource and Integration with Large-Scale Rare Disease Cohorts

Study code

Lead researcher
Dr Alba Sanchis-Juan

Study type
Data only

Institution or company
Broad Institute of MIT and Harvard, Cambridge, MA

Researcher type

Speciality area
Genomics and Rare Diseases


Advances over the past 10 years in genetic science have led to remarkable progress in understanding the causes of rare genetic diseases, yet more than half of cases are still not fully understood. The goal of this project is to look at genetic data collected worldwide, from donated research samples. By looking at all these samples together we will have a better understanding of the genetic differences and similarities that can lead to the most severe genetic disease in humans. To achieve this goal, we intend to combine very large-scale rare disease datasets that will include the NIHR BioResource Rare Diseases cohorts. We will combine multiple genetic changes (variant types) and perform a variety of analyses to determine similarities across patients in different datasets to their rare diseases. These studies will improve knowledge of gene dosage effects in many rare diseases, which will ultimately benefit affected individuals and their families.