Author

B. Peters

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Open access Sep 2026

A little longer, a lot better: simulation-guided exploration of extended-length single-end barcoded reads for structural variant detection

increasing read length consistently improves SV detection accuracy, with SE1000_stLFR achieving the best performance among the evaluated stLFR configurations and showing competitive performance relative to ICLR- and pangenome-based approaches, while approaching the performance of long-read methods.

Can Luo, Y. Liu, Han Liu et al. · Bioinformatics Advances · 0 citations

Open access Jul 2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

This work provides mechanistic evidence that a position effect at the SOX3 locus can cause hereditary spastic paraplegia and identifies a 3D regulatory rewiring of SOX3 and transcriptional dysregulation of SOX3 targets in iPSC-derived neurons.

T. Terkelsen, V. Yumiceba, Joshua Kim et al. · American Journal of Human Ge... · 0 citations