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

Höijer I, Tsai YC, Clark TA, Kotturi P, Dahl N, Stattin EL, Bondeson ML, Feuk L, Gyllensten U, Ameur A

Human Mutation 39 (9) 1262-1272 [2018-09-00; online 2018-07-12]

Bioinformatics Compute and Storage [Service]

NGI Uppsala (Uppsala Genome Center) [Technology development]

QC bibliography QC xrefs

PubMed 29932473

DOI 10.1002/humu.23580

Crossref 10.1002/humu.23580

https://github.com/NationalGenomicsInfrastructure/HTT-repeat-analysis [analysis code, sequence data]