Genetic & Genomic MedicineGenome ResearchPeer-reviewed
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
Judith Arres, Santosh Elavalli, Shalini Behl…·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.
5 citations