Article

Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary Diseases

2026-05-19

Abstract excerpt

<h4>Purpose</h4> Carrier screening for hereditary conditions is challenged by genes with complex genomic architecture, where short-read sequencing can fail to detect clinically relevant variants. This study evaluated a unified, amplification-based nanopore sequencing workflow across multiple laboratories for comprehensive analysis of such loci. <h4>Methods</h4> A modular long-read sequencing assay was evaluated...

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Literature Corpus work: c2be3be3-d327-529c-8e29-bf357e2928c1
DOI: 10.64898/2026.05.14.725224

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