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Article

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Human mutation - 1 Sept 2018

Höijer Ida, Tsai Yu-Chih, Clark Tyson A, Kotturi Paul, Dahl Niklas, Stattin Eva-Lena, Bondeson Marie-Louise, Feuk Lars, Gyllensten Ulf, Ameur Adam

Abstract excerpt

Amplification of DNA is required as a mandatory step during library preparation in most targeted sequencing protocols. This can be a critical limitation when targeting regions that are highly repetitive or with extreme guanine-cytosine (GC) content, including repeat expansions associated with human disease. Here, we used an amplification-free protocol for targeted enrichment utilizing the CRISPR/Cas9 system...

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Source

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Identifiers

PMID: 29932473
DOI: 10.1002/humu.23580
PMCID: PMC6175010

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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