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Author

Uirá Souto Melo

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Open access Sep 2026

dicast: a machine learning method for accurate structural variant detection from short-read sequencing data

Structural variants are a common cause of human diseases, but their detection from short-read sequencing remains challenging, despite being the technology underlying most clinical workflows. We present dicast, a machine-learning method that scores SV calls from short-read data using alignment and genomic-context featur...

Nico Alavi, M. Moeinzadeh, J. Hertzberg et al. · 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. · 0 citations

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