Article

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders

2024-09-06

Abstract excerpt

The hereditary spastic-ataxia spectrum disorders are a group of rare disabling neurological diseases. The genetic testing process is complex, and often requires multiple different assays to evaluate the many potential causative genes and variant types, including short tandem repeat expansions, single nucleotide variants, insertions/deletions, structural variants and copy number variants. This can be a protracted p...

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Literature Corpus work: 244321f5-9941-5874-80db-a8b0102776f5
DOI: 10.1101/2024.09.04.24312938

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