NCM 2022: Rapid genomic analysis for thrombotic microangiopathy using nanopore adaptive sampling with EPI2ME SeqOne framework

Thrombotic microangiopathy (TMA) encompasses various genetically driven diseases. The highly repetitive character of sequences in this region makes it difficult to detect structural variants when using standard short-read sequencing methods. To implement a versatile, fast-track genomics analysis for TMA in adult renal disease at the Sorbonne University, ICU, we developed a framework using nanopore adaptive sampling coupled to the SeqOne platform for analysis. SeqOne provides a centralised cloud-based solution that includes a nanopore-validated pipeline derived from the EPI2ME framework. This new approach maximizes the chance of discovering new descriptions related to SNVs and SVs and could enable precision medicine for complement-mediated TMA in less than three days for targeted therapy.