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<i>RFC1</i> repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates

2024-02-29

Abstract excerpt

Biallelic expansions and a motif change in RFC1 are a common cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. Molecular diagnosis relies on a complicated combination of repeat primed PCR and Southern blotting. We developed a whole genome sequencing based method for RFC1 repeat detection. The combination of sequence motifs and allele length analysis in 29,478 individuals showed that 92....

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Identifiers and source

Literature Corpus work
650cea5e-61a7-5a30-8cc0-f29730aa7c42
DOI
10.1101/2024.02.28.24303510
Open publication

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<i>RFC1</i> repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic ratesDOI 10.1101/2024.02.28.24303510
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