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Author

SL Salzberg

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Open access Sep 2026

Large-scale analysis of transcript data reveals thousands of recursive splicing events in human introns

Recursive splicing (RS) is a process in which an intron is removed from a nascent RNA molecule in two or more splicing events rather than one. We introduce a novel approach for detecting recursive splice sites (RSSs), the intronic loci at which RS events occur, based on alignment of total RNA-seq data to short, customi...

David J. Bass, Steven L. Salzberg · 0 citations
Open access Sep 2026

Improving Metagenomics Classification with Kmask: Entropy-Based Masking of Low-Complexity Regions

Accurate taxonomic classification in metagenomics is often compromised by low-complexity sequences, which lead to chance matches that in turn cause sequences to be misclassified. Here we present Kmask, an entropy-based masking tool implemented for use either standalone or as part of Kraken [1,2] database construction,...

Yu-Chen Ge, Edward Z. Li, Harun Mustafa et al. · 0 citations
Open access Aug 2026

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.

Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji et al. · 8 citations

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