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Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.
(academic.oup.com)
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Bioinformatics 2026-02-28 | #methylation #assembly #sequencing #variants | |
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Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.
(academic.oup.com)
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Bioinformatics 2026-02-28 | #regulatory #variants #congenital #prioritization |