Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary Diseases
Stela Filipovic-Sadic, Connor A. Parker, Mia K. Mihailovic, John N. Milligan, Jonathan Turner, Stephanie L Borel, Vivian Le, Theodore Markulin, Justin Janovsky, Bryan Killinger, Malia J. Deshotel, N. Scott Reading, Eric K. Fredrickson, Yuan Ji, Devin W. Close, , Bradley Hall
This study evaluates a nanopore sequencing workflow for detecting complex variants in hereditary disease genes across multiple labs, finding high agreement with standard methods.
bioRxiv · May 19, 2026 · PreprintGenetics