Extended Data Fig. 1: Schematic overview of experimental procedures for single cell targeted long-read sequencing and quality control results.

a. Detailed workflow of 10X Genomics Single Cell 3‘ gene expression protocol combined with targeted enrichment of full-length transcripts by hybridization and capture and Nanopore long-read sequencing. b. Enrichment of targeted transcripts by single and double capture approach (n = 6 patients except for TRAC n = 4) relative to cDNA input. The double capture improves the enrichment of targets by a factor of 10 (from 10³- to 10⁴-fold) compared to the single capture and more efficiently depletes non-target transcripts. Initial test experiment of single capture (n = 1 patient) is shown. c. Representative Agilent Bioanalyzer traces of cDNA libraries before and after targeted enrichment. The amplified full-length cDNA and the post-capture targeted cDNA library were analyzed on an Agilent High Sensitivity DNA Chip. The gel (left) and cDNA profiles (right) suggest the presence of an enriched fraction after two rounds of hybridization and capture compared to the input cDNA library. Panel B: error bars ± SD shown.