Additional file 1: Table S1. of Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

Detailed information of samples. Table S2. Analysis of rare coding variants. Table S3. Description and summary of quality control steps of whole-exome sequencing samples. Table S4. Exome sequencing coverage in genes included in the WES analyses. Table S5. Gene-based SKAT-O association test p-values and per gene counts of WES variants that passed filtering steps. Table S6. Gene-based Cochranâ Mantelâ Haenszel association test results based on WES variant counts in Chinese and Europeans. Table S7. Previously reported variants that are likely causal for ALS identified in individuals in our study. Table S8. NEK1, SOD1, TBK1 variants identified in SKAT-O and/or ALS specific variant/gene testing. Table S9. Not previously reported variants of probable/possible/unknown significance in ALS-related genes identified in at least one individual in our study. Table S10. Individuals identified with two or more variants considered relevant for ALS (oligogenic). Table S11. Previously reported variants that are unlikely causal (due to high minor allele frequency) identified in individuals in our study. (XLSX 7252 kb)

样本详细信息。表S2：罕见编码变异分析。表S3：全外显子组测序样本质控步骤说明与汇总。表S4：全外显子组测序（whole-exome sequencing, WES）分析所纳入基因的测序覆盖度情况。表S5：通过过滤步骤的全外显子组测序变异的基于基因的SKAT-O关联检验p值及每基因变异计数。表S6：基于中国和欧洲人群全外显子组测序变异计数的基于基因的科克兰-曼特尔-亨塞尔（Cochran-Mantel-Haenszel）关联检验结果。表S7：本研究中在个体内鉴定到的、既往报道的可能与肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis, ALS）存在因果关联的变异。表S8：在SKAT-O和/或肌萎缩侧索硬化症特异性变异/基因检测中鉴定到的NEK1、SOD1、TBK1变异。表S9：本研究中至少1名个体内鉴定到的、既往未报道过的、在肌萎缩侧索硬化症相关基因中具有可能/可疑/未知意义的变异。表S10：被鉴定出携带2种及以上与肌萎缩侧索硬化症相关变异（寡基因遗传模式）的个体。表S11：本研究中在个体内鉴定到的、既往报道的因次要等位基因频率过高而不太可能与肌萎缩侧索硬化症存在因果关联的变异。（XLSX格式，7252 kb）