Fig. 3: Amplicon long-read sequencing in the unidentified mitochondrial encephalopathy cohort.
From: Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
a Design of amplicons for long-read sequencing. Two overlapping long-PCR amplicons covering the NAXE genomic region were designed. (GGGCC)r denotes the site of pathogenic GGGCC repeat expansion in the promoter region of NAXE. b Allele frequencies of variations in the GGGCC repeat region in the examined cohort and in TR-gnomAD, a dedicated tandem repeat catalogue, based on short-read whole genome sequencing (WGS). (GGGCC) ×5 denotes ×5 repeat and its derivatives. For details of each allele with different GGGCC repeat length or internal sequence, see Supplementary Table 4.
