BIG-Annotator：基因组测序数据高效功能注释及其在遗传诊断中的应用
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黄莹,刘琪,池连江,石承民,吴祯,胡敏,石宏,陈华
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Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis
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Huang Ying,Liu Qi,Chi Lianjiang,Shi Chengmin,Wu Zhen,Hu Min,Shi Hong,Chen Hua
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| 表3 成骨不全症相关的23个候选SNP位点及其对应基因 |
| Table 3 List of 23 candidate SNPs and genes for OI |
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| 基因 | SNP | | 错义突变 | 终止密码突变 | 未知 | | AGAP3 | CHR7_150783917_T2G_L2R | - | - | | CD22 | rs182604067 | - | - | | COL1A2 | rs66612022 | - | - | | DNAJC21 | rs77129269 | - | - | | DNASE1L3 | rs12491947 | - | - | | DNTT | CHR10_98079087_G2T_K2N | - | - | | HMMR | CHR5_162898459_G2C_E2Q | - | - | | HSPA6 | rs41297718 | - | - | | IL17RD | rs140930246 | - | - | | KCNJ12 | rs4985866 | - | - | | KCNJ18 | rs4985866 | - | - | | MCM7 | CHR7_99693641_C2T_A2T | - | - | | PDPR | rs10852462 | - | - | | PRIM2 | - | - | rs927192 | | PTPRG | rs372086949 | - | - | | RNF19B | rs113840389 | - | - | | SORBS1 | - | CHR10_97096994_G2A_R2X | - | | TACC2 | rs140280635 | - | - | | TRPS1 | CHR8_116427025_T2G_Q2H | - | - | | XKR9 | - | rs115507207 | - | | ZAN | - | - | rs191137 | | - | - | rs80067406 | | ZHX2 | CHR8_123965019_C2G_I2M | - | - |
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