Article

Enriching for Answers in Rare Diseases

2025-10-24

Abstract excerpt

We present Trio-barcoded ONT Adaptive Sampling (TBAS), a cost-efficient long-read sequencing strategy combining sample barcoding and adaptive enrichment to sequence rare-disease trios on a single PromethION flow cell. TBAS achieved near-complete variant phasing and detection of small variants, structural variants, and tandem repeats with high accuracy and 77% potential solve rate. This scalable approach retains me...

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Literature Corpus work: 091db8b1-4025-5612-aeee-e99758248aac
DOI: 10.1101/2025.10.21.25338483

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