title: Cas9-targeted long-read sequencing of homo sapiens AR UTR: AIS patient with LINE1 insertion in AR 5 prime UTR
design: High molecular weight DNA was extracted from patient derived genital skin fibroblast culture. Cas9-targeted sequencing from Oxford Nanopore Technologies (ONT) was performed to enrich the target region and to obtain the full-length L1 sequence as well as epigenetic information. CRISPR RNAs (crRNAs) were designed with CHOPCHOP (https://chopchop.cbu.uib.no (accessed on 11 October 2023)). Two crRNAs were used upstream of the AR L1 insertion, and two crRNAs were used downstream. The enriched DNA was prepared with the Nanopore Ligation Sequencing Kit (SQK-LSK110 and SQK-LSK114), loaded on R10.4.1 flow cells and sequenced with GridION