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).