Article

Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism

2020-01-22

Abstract excerpt

<title>Abstract</title> <p>Huntington disease \(HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the _HTT_ gene. Affected individuals inherit more than 40 repeats and the CAG repeat is genetically unstable in both the germline and soma. Molecular diagnosis and genotyping of the CAG repeat is traditionally performed by estimation of PCR fragment s...

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Literature Corpus work: 88c1bf91-70bc-563c-bfb0-0aaec8d48ec5
DOI: 10.21203/rs.2.1581/v2

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