Article

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

2024-07-16

Abstract excerpt

<h4>ABSTRACT</h4> The cerebellar ataxias (CA) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnoses. Despite this, diagnostic testing is limited and inefficient, often utilizing single gene assays. This study evaluated the effectiveness of long- and short-re...

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Literature Corpus work: 1e8b26b9-ddc4-539b-9d0d-f3efaea34099
DOI: 10.1101/2024.07.08.24309939

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