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Approved Research

Develop an in-house WGS solution for exploring rare disease insights

Principal Investigator: Dr Ana Marques
Approved Research ID: 91144
Approval date: April 5th 2023

Lay summary

To develop a solution for the exploration of rare diseases on the whole genome of a patient, we need to have benchmark data for testing the efficacy of our solution. As rare diseases are complex - finding the genetic needle in the haystack - having a solution that will explore the entire human genome, both the coding and the non-coding component will  bring us closer to solving this complex puzzle.