Author

Yilei Fu

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Open access Sep 2026

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio sequencing of an affected child and both paren...

Yilei Fu, A. English, L. Paulin et al. · Nature Communications · 0 citations

Open access Aug 2026

SALRR: Scalable Analysis of Long-Read RNA-Seq Enables Comprehensive Transcriptome Profiling in Human Brain

An integrated wet-lab and computational platform designed to overcome barriers to population-scale long-read RNA sequencing, providing a scalable, community-ready framework for isoform-resolved transcriptomics in neurodegeneration, aging, and complex brain disease.

C. Kouam, Jackson Mingle, Pilar Álvarez Jerez et al. · bioRxiv · 0 citations