LRS of peripheral blood: boy blood
Genomic DNA from the boy was isolated from peripheral blood by using a whole-blood genomic DNA extraction kit (Beijing Bioteke Biotechnology Co., Beijing, China). Target sequencing library preparation was carried out using a 1D Genomic DNA ligation kit (Oxford Nanopore, Oxford, UK) according to the manufacturer's protocol. The library was sequenced on R9.4.1 flow cells using the Nanopore PromethION (Oxford Nanopore, Oxford, UK) sequencers. Alignment to the human genome was performed using minimap2 (average read length of 17,100bp and depth of 15X). Variations were called using Clairvoyant and Sniffles. The pathogenicity of the variants was evaluated according to the ACMG genetic variant classification standards and guidelines.