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Abstract Infectious disease monitoring on Oxford Nanopore Technologies (ONT) platforms offers rapid turnaround times and low cost. Tracking low frequency intra-host variants provides important insights with respect to elucidating within-host viral population dynamics and transmission. However, given the higher error rate of ONT, accurate identification of intra-host variants with low allele frequencies remains an open challenge with no viable computational solutions available. In response to this need, we present Variabel, a novel approach and first method designed for rescuing low frequency intra-host variants from ONT data alone. We evaluate Variabel on both synthetic data (SARS-CoV-2) and patient derived datasets (Ebola virus, norovirus, SARS-CoV-2); our results show that Variabel can accurately identify low frequency variants below 0.5 allele frequency, outperforming existing state-of-the-art ONT variant callers for this task. Variabel is open-source and available for download at: www.gitlab.com/treangenlab/variabel .more » « less
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Gould, Elliot; Fraser, Hannah S; Parker, Timothy H; Nakagawa, Shinichi; Griffith, Simon C; Vesk, Peter A; Fidler, Fiona; Hamilton, Daniel G; Abbey-Lee, Robin N; Abbott, Jessica K; et al (, BMC Biology)Free, publicly-accessible full text available December 1, 2026
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Walker, Kimberly; Kalra, Divya; Lowdon, Rebecca; Chen, Guangyi; Molik, David; Soto, Daniela C.; Dabbaghie, Fawaz; Khleifat, Ahmad Al; Mahmoud, Medhat; Paulin, Luis F; et al (, F1000Research)In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon. The goal of the hackathon was to advance research on structural variants (SVs) by prototyping and iterating on open-source software. This led to nine hackathon projects focused on diverse genomics research interests, including various SV discovery and genotyping methods, SV sequence reconstruction, and clinically relevant structural variation, including SARS-CoV-2 variants. Repositories for the projects that participated in the hackathon are available at https://github.com/collaborativebioinformatics.more » « less
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Wenger, Aaron M.; Peluso, Paul; Rowell, William J.; Chang, Pi-Chuan; Hall, Richard J.; Concepcion, Gregory T.; Ebler, Jana; Fungtammasan, Arkarachai; Kolesnikov, Alexey; Olson, Nathan D.; et al (, Nature Biotechnology)
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