三代个体重测序

挖掘基因组大片段结构变异,探究性状遗传机制

产品介绍

 

皇朝国际YIPacbioHEOxford nanoporeWEIDAIBIAODESANDAICEXUJISHUYIJIDUZHANGZHANGDETEDIANZAIDONGZHIWUJIYINZUYANJIUZHONGHUODEDALIANGYINGYONG,JIYUSANDAICEXUJISHUDUIYANGPINJINXINGQUANJIYINZUCEXU,LIYONGHUODEDE10kb~20kbZHANGreadsYUWUZHONGCANKAOJIYINZUJINXINGBIDUIFENXI,KEYIJINGZHUNKAIFADEDAOYANGPINYUCANKAOJIYINZUHUOZHEYANGPINJIANDEDNAXULIEDEYICHUANBIANYI,RUJIEGOUBIANYI(Structural Variation,SV)HEKAOBEISHUBIANYI(copy number variations, CNV)DENG,ERZHEIXIEDAPIANDUANDEXULIEBIANYIDEJIANCESHIERDAIZHONGCEXUWUFAZUODAODE。LIYONGKAIFADEDAOSV、CNVKEYIJINXINGDAGUIMOQUNTICENGMIANDEYICHUANFENXI,YEKEYIFENXIZHEIXIEBIANYIYUJIYINGONGNENG、WUZHONGXINGZHUANGBIANYIZHIJIANDEYICHUANGUANXI,SANDAIZHONGCEXUSHIWAJUEWUZHONGYICHUANBIANYIXINXIDEQUANXINCELVE。

 应用方向

 YINGYONGYI:DONGZHIWUJIEGOUBIANYIJIANCE

皇朝国际YINGYONGER:WAIYUANPIANDUANCHARUWEIZHIJIANCE

 分析内容

 

测序数据质控与统计;
与参考基因组比对;
SV检测与注释;
多个样品差异SV分析
多个样品差异SV基因注释及功能富集分析
全基因组结构变异circos图

ONT重测序送样要求

DNA样品

浓度(ng/uL) (Qubit检测) 总量(ug) OD260/280 OD260/230 琼脂糖凝胶电泳 Nanodrop与Qubit检测浓度比值 外观
≥50 满足按数据量计算对总量要求,一般按2ug DNA可产出60G数据计算 1.8-2.2 1.8-2.5 size≥23K,降解条带>5K,点样孔无或有轻微污染 0.9-2.0 无颜色、无沉淀物

组织样品

物种 组织部位 组织量
 动物 肝脏/肾脏等内脏组织 ≥0.35g
  动物 肌肉 ≥0.5g
  动物 哺乳动物血液 ≥0.5mL
动物 禽类/鱼类血液 ≥0.1mL
植物 新鲜叶片 ≥0.5g
植物 花瓣/茎 ≥1.0g
植物 根/种子 ≥2.0g
细胞 培养细胞 ≥1×107

产品优势

 

皇朝国际BEIJINGBAIMAIKESHENGWUKEJIYOUXIANGONGSISHENGENGYUSANDAICEXULINGYU,XIANHOUYINRUZUIXINDESANDAICEXUPINGTAI,2015NIANYINRUPacbioCEXUPINGTAI,JIEZHIDAOMUQIANBAIMAIKEYIYONGPacBioQUANXIPINGTAI:PacBio sequel Ⅱ、PacBio Sequel、HERS Ⅱ、,2017NIANCHUYINRUNanoporeCEXUPINGTAI,Nanopore QUANXIPINGTAI:PromethION-48、PromethION-β、GridION、MinION,SHIMUQIANGUONEIWAITIGONGZUIQUANMIANSANDAICEXUDEFUWUSHANGZHIYI。

应用案例

案例1、

TIMU:Mapping and phasing of structural variation in patient genomes using nanopore sequencing,YINGYONGNanoporeCEXUJIANCEBINGRENJIYINZUJIEGOUBIANYI.

QIKAN:Nature Communications

FABIAOSHIJIAN:2017

主要研究成果

  • ONT鉴定SV能力优于illumina平台,鉴定到了复杂的新生基因组重排——染色体碎裂(chromothripsis);
  • ONT长读长可有效phasing变异(SNV和SV);
  • 并发现短读长测序遗漏的很大一部分的反转录转座子插入。

技术方法

  • 来自2个先天多发畸形患者的PBMC和淋巴母细胞样细胞系样本
  • MinION平台Nanopore三代全基因组重测序,10-20kb文库,平均测序深度分别为16X和11X;
  • Illumina HiSeq X平台,~30X,400-500bp文库。

案例2、

皇朝国际TIMU:The population genetics of structural variants in grapevine domestication, PUTAOXUNHUAGUOCHENGZHONGJIYINZUJIEGOUBIANYIDEQUNTIDONGTAI.

QIKAN:Nature Plants

FABIAOSHIJIAN:2019

背景

JIEGOUBIANYI(structural variant;SV)SHIZHIWUJIYINZUZHONGWEIBEIGUANGFANJIANDINGDEYILEITEZHENG。GUANYUZHIWUZHONGJIEGOUBIANYIDELEIXINGHEDAXIAO、GETIZHONGDEFENBUYIJIQUNTIDONGTAIDOUBUSHIHENQINGCHU。DUIYUJIEGOUBIANYIDESHENRUYANJIUJIANGYOUZHUYUWOMENJINYIBULIJIEJIEGOUBIANYIDUIYUBIAOXINGDEYINGXIANGYIJITONGGUOQUANJIYINZUGUANLIANFENXIJIANDINGQIZUOWEIMUDEBIAOXINGGUANJIANYICHUANYINZIDEKENENGXING。

主要结果

BENWENZHONG,ZUOZHEJIANDINGLETONGGUOWUXINGFANZHIDEPUTAOZAIPEIZHONGQUNTIYIJIQIYIJIAOYESHENGZUXIANZHONGZHONGDEJIEGOUBIANYI,BINGYANJIULESVDEYANHUAJIYINZUDONGTAI。ZUOZHEZUZHUANGLEYIGEGAODUZAHEDEChardonnayJIYINZU,JIYUSVDEJIEGUOFAXIANChardonnayJIYINZUSHANGDAYUEYOUQIFENZHIYIDEJIYINSHUYUBANHEZI。TONGGUOQUANJIYINZUZHANGreadHEDUANreadBIDUIDAOChardonnayHECabernet SauvignonCANKAOJIYINZUSHANG,ZUOZHEJIANCELEJINKENENGDUODESV。ZUOZHEFAXIANQIANGLIEDECHUNHUAXUANZEZUOYONGYUJIEGOUBIANYI,DANYOUQIZHENDUIDAOZHIHEYIWEISHIJIAN。JINGUANRUCI,JIEGOUBIANYIHAISHITONGGUOYINXINGZAHEZIDEFANGSHIZAIWUXINGFANZHIDEPUTAOPUXIZHONGBUDUANJILEI。TONGSHI,JIEGOUBIANYIHAIQUFENLEPUTAOYESHENGZHONGHEZAIPEIZHONGZHIJIANJIYINZUFENHUADELIQUNQUYU,SHUOMINGQIZAIXUNHUAZHONGDEZUOYONG。ZHEIXIELIQUNQUYUZHONGBAOKUOYIGEXINGBIEJUEDINGQUYUHEPUTAOJIANGGUOZHESEWEIDIAN,DULIDEDAPIANDUAN、FUZADAOZHIQUDONGLEQUTONGDEBIAOXINGYANHUA。

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