Describes a cost-saving long-read trio sequencing workflow that uses phenotype-driven barcoding and adaptive enrichment to improve rare disease genetic analysis.
Key Takeaways
- It is citable and carries a permanent DOI
- This version is subject to further edits and will be replaced automatically by the final Version of Record
- Here we show that phenotype-driven Trio-barcoded Oxford Nanopore Adaptive Sequencing (TBAS)