Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

Uirá Souto Melo

h-index 3 View on Semantic Scholar

We have 2 of 4 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.