UDN relied on the CGAP pipeline to process whole genomes of patients and their family members. The resulting dataset enables new discovery and efficient data sharing across the network.
The NIH-funded Undiagnosed Disease Network (UDN) focuses on unique conditions that cannot be diagnosed in a routine clinical setting. The network includes twelve clinical sites across the US assisted by a DNA sequencing core, a model organism core, a metabolomics core and a coordinating center. Many patients referred to UDN underwent an unsuccessful diagnostic odyssey and require attention of the research community. Most of conditions analyzed by UDN are previously unknown monogenic diseases or uncharacterized presentations of known monogenic diseases. Successful UDN diagnoses also bring scientific discoveries on the biological roles of human genes. With the number of UDN patients growing, there is a realization that the analysis can greatly benefit from a uniform processing of harmonized whole genome sequencing data.