WGS of XP-V patient - Monozygotic Twin 01
Whole-genome sequencing (WGS) was performed to investigate mutagenic processes accumulated independently in each twin, from zygotic development to the time of sample collection, in addition to identifying the causative germline mutation responsible for the XP-V phenotype. Parental samples were also sequenced to enable filtering of shared germline variants in each twin. Genomic DNA libraries were prepared using standard MGI protocols, and sequencing was carried out on the MGI DNBSEQ-G400 platform with 150 bp paired-end reads.