Multi-sequencing of patients with complex ataxia
Raw FastQ sequences from Illumina NovaSeq 6000 S4 Whole-Genome and RNA sequencing; raw FastQ sequences from targeted Nanopore Long-Read sequencing. Multi-omics were used mainly for variant calling and the subsequent functional assesment of the effect of potential disease-causing variants. Samples were extracted from peripheral blood mononuclear cells (PBMC). Shotgun PCR-free genomic paired-end (150bp) library was prepared using dual-index adapters; RNA PolyA-captured paired-end (100bp) library was prepared using next-dual adapters; Oxford Nanopore Long-Read sequencing (R10 chemistry) was performed on PCR-amplified targeted libraries prepared with the SQK-NBD112 kit.