OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders

Genome sequencing (GS) is a powerful clinical tool used for the comprehensive diagnosis of germline disorders. WGS library prep typically involves mechanical DNA fragmentation, end repair, bead-based library size selection, and adapter ligation, which usually requires a large amount of input genomic DNA. Tagmentation using bead-linked transposome can simplify the library prep process and reduce the DNA input requirement. Here we describe clinical validation of tagmentation-based PCR-free GS as a clinical test for rare germline disorders.