Article

Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease

2026-03-23

Abstract excerpt

Structural variants (SVs) are a major source of genetic diversity, yet how they impact cell types in complex brain diseases remains largely unexplored, partially due to limitations of short-read sequencing. Here, we addressed this fundamental question in Parkinson's disease (PD). generating long-read whole-genome sequencing (WGS) data for 100 post-mortem brain samples from a PD cohort, constructing a high-confiden...

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Literature Corpus work: 5f473f3a-f7ee-5fce-a5ba-b6894e845bd4
DOI: 10.64898/2026.03.20.713192

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