Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
Judith Arres, Santosh Elavalli, Shalini Behl, Daniel Matías-Sánchez, Ayesha Al Ali, Abdelrahman Ahmed Yehia Abdelaziz Saad, Azza Attia, Cyla Minas, Sharika Pariyachery, Shariq Ahmed, Fatmah Aldhuhoori, Nitu Thulasidharan, Gurunath Katagi, Omar Soliman, Shilp Purohit, , Javier Quilez
This study evaluates Oxford Nanopore sequencing's performance in clinical genomics using reference samples, showing high accuracy for SNVs and SVs but challenges with INDELs and CNVs.
Genome Research · Mar 1, 2026Peer-reviewedGenetic & Genomic Medicine