Automated application of novel gene-disease associations to scale reanalysis of undiagnosed patients
Nana Mensah, Ataf Hussain Sabir, Andrew Bond, Wendy Roworth, Melita D. Irving, Angela C. Davies, Joo Wook Ahn
TierUp automates reanalysis of genomic data to identify novel gene-disease associations, improving diagnostic yield for undiagnosed rare disease cases.
Genetics in Medicine · Nov 29, 2021Peer-reviewedGenetic & Genomic Medicine