2.4 Data Analysis
Data analysis for all patients was performed at Xin Hua Hospital. The genome sequencing data analysis pipeline has been described previously(Sun et al., 2021). Small variants, CNVs, mitochondrial variants, loss of heterozygosity (LOH) and trinucleotide repeats were called from the sequencing result. For each family, small variants and CNVs were analyzed together under three possible inheritance patterns: autosomal dominant/de novo, autosomal recessive and X-linked. Patient phenotypes were compared with identified variants and their respective inheritance patterns. Phenotypic information was collected using Human Phenotype Ontology (HPO) terminology. The variant pathogenicity was evaluated according to ACMG guidelines(Richards et al., 2015; Riggs et al., 2020).