Enriching for Answers in Rare Diseases
Fu, Y.; English, A. C.; Paulin, L. F.; Jhangiani, S. N.; Weissenberger, G.; Vee, V.; Han, Y.; Mehta, H. H.; Posey, J. E.; Muzny, D. M.; Gibbs, R. A.; Calame, D. G.; Sedlazeck, F. J.
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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 methylation data and enables clinically relevant, phenotype-guided long-read diagnostics at a fraction of current costs.
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