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Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics - 28 Jul 2026

Ehn Emma, Thonberg Håkan, Nennesmo Inger, Lindstrand Anna, Kvarnung Malin, Graff Caroline

Abstract excerpt

Neurodegenerative diseases (NDDs) are clinically and genetically heterogeneous, requiring neuropathology or molecular testing for a definitive diagnosis. Clinical whole genome sequencing (WGS) enables comprehensive variant calling across flexible gene lists that can be tailored to the clinical presentation. By allowing simultaneous detection of single-nucleotide variants, copy-number variants, structural...

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PMID: 42561134
DOI: 10.1093/hmg/ddag072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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