Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. Table S2. ClinVar-Simulated Genetic Variants and Associated Phenotypes. Table S3. Newly added disease-gene entries in the Human Phenotype Ontology (HPO) database.附加文件1：表S1。109例患者外显子组数据集的临床与遗传特征。表S2。临床变异数据库（ClinVar）模拟的遗传变异及其相关表型。表S3。人类表型本体（Human Phenotype Ontology, HPO）数据库中新增的疾病-基因条目。