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申请/专利权人：天津协和博精医学诊断技术有限公司

摘要：本发明提供了一种基于SNP高通量测序技术检测血液系统肿瘤染色体倍体异常的组合物、试剂盒及应用。具体地，本发明筛选出了一组特定的SNPs位点组合并基于此设计了一套基于SNP高通量测序技术检测血液系统肿瘤染色体倍体异常的方法。本发明方案可进行单独的染色体倍体检测，也可作为技术模块添加在常规靶向捕获‑NGS测序流程基础上，无需占用独立实验人员和专业检测仪器，联合现有NGS检测技术使用大幅度节约成本，实现对染色体倍体的精准检出，检出精准高，同时做到了对全部23对染色体的全覆盖。克服了前述染色体倍体异常检测方案对覆盖全面度、检测精准度、技术复杂度和价格方面的种种不足。

主权项：1.一种检测血液系统肿瘤染色体倍体异常的SNPs组合，其特征在于，所述SNPs组合包含SNP位点1-11943，共11943个SNP位点，所述SNP位点1-11943的rs号依次为rs2340527、rs13302969、rs6701114、rs1272959、rs904586、rs28689700、rs601141、rs12744867、rs3107129、rs1532385、rs2477702、rs187759598、rs897628、rs1474562、rs2455137、rs4648507、rs12401505、rs10909797、rs35131135、rs10915428、rs34429154、rs4654438、rs6681520、rs7547152、rs9286973、rs1320179、rs36139907、rs7528859、rs28479388、rs1295100、rs2294713、rs278017、rs10128028、rs11120877、rs1750851、rs3124803、rs488728、rs2120459、rs2708629、rs1318218、rs6698830、rs4908803、rs2032539、rs10864414、rs115849843、rs4240910、rs6680076、rs34970915、rs10864459、rs284288、rs11586085、rs6540964、rs2744815、rs2817580、rs9430208、rs1999594、rs562844、rs3397、rs4845908、rs12089791、rs570910916、rs2995600、rs354581、rs4661455、rs6673156、rs6662664、rs12401417、rs705576、rs761288、rs1622686、rs550003、rs10927798、rs848217、rs146865861、rs221025、rs2209174、rs6691954、rs2244416、rs3003449、rs2501778、rs773400848、rs1193338、rs620547、rs11261023、rs1832787、rs2244796、rs2789322、rs12043029、rs1078894、rs4912067、rs6683419、rs10916667、rs599367、rs10799627、rs2641114、rs628497、rs2874367、rs1568407、rs829369、rs4654765、rs4532803、rs2744719、rs12120413、rs10917239、rs209700、rs12564658、rs2675494、rs1208932、rs10753554、rs3218211、rs4440808、rs870549、rs35071804、rs497823、rs4553122、rs9438860、rs3845303、rs1293267、rs660518、rs34491689、rs807057、rs6691747、rs6669111、rs4908343、rs12070659、rs559058、rs12046630、rs12045777、rs6669507、rs28706690、rs10798901、rs746758、rs1022489、rs262592、rs1983821、rs3762296、rs7526662、rs4949372、rs10798854、rs1356803、rs3480、rs9662317、rs10914759、rs526699、rs10158832、rs7537943、rs10753311、rs35035273、rs479745、rs1768560、rs596471、rs491603、rs6692334、rs12042056、rs1886913、rs12409105、rs2359867、rs2884812、rs2492301、rs12027278、rs28428561、rs2637885、rs2247973、rs12043383、rs12733433、rs12117785、rs613511、rs2068473、rs230315、rs3122414、rs10889220、rs3969615、rs928508、rs7541356、rs878918732、rs11209779、rs869266、rs871344、rs653944、rs2071499、rs2494355、rs10890201、rs4660665、rs841408、rs10749846、rs6429632、rs3011228、rs10493116、rs325168、rs946959、rs6683133、rs6698951、rs2050884、rs2088102、rs12404197、rs34102169、rs6671303、rs10252、rs7543083、rs6679068、rs12022635、rs2742104、rs3850880、rs55798243、rs214219、rs2275309、rs320014、rs11205538、rs5006893、rs7546954、rs1890288、rs4408195、rs10736388、rs11205678、rs12124357、rs6691061、rs768529、rs6686975、rs10888754、rs12565708、rs11206152、rs1949943、rs10888808、rs6588494、rs581542、rs7553843、rs300279、rs1180941、rs1076528、rs17413897、rs10888922、rs62641608、rs1165516、rs10399899、rs706406、rs6588623、rs2746351、rs706473、rs534455、rs11587719、rs10889046、rs1886140、rs1343635、rs555213、rs697588、rs12082097、rs11207304、rs2764934、rs12139438、rs2407599、rs6690135、rs11207552、rs3909442、rs4424544、rs11207644、rs446550、rs1125777、rs2095736、rs6587943、rs7512525、rs927531、rs4019715、rs4329540、rs11208027、rs1191758、rs3887428、rs10789136、rs705511、rs1691385、rs4915658、rs6687194、rs12410422、rs2500234、rs12127284、rs7545094、rs1570868、rs6673324、rs2801578、rs1500961、rs502958、rs699261、rs1338190、rs1391547、rs2755263、rs10789230、rs11209074、rs6588282、rs6588290、rs1367448、rs1925961、rs10889786、rs906474、rs4146494、rs4650294、rs1361493、rs674706、rs59705016、rs2782802、rs2072947、rs1418449、rs12125823、rs11209814、rs10889932、rs12026691、rs2821296、rs4278325、rs6424496、rs7552256、rs6672818、rs622421、rs6674198、rs12033301、rs11210403、rs1935127、rs11210484、rs28567064、rs941032、rs11590275、rs1323735、rs7545219、rs548691、rs12096789、rs474104、rs1875650、rs199723、rs12565526、rs7552291、rs6672200、rs58611517、rs7536907、rs670271、rs1937020、rs2130195、rs10782683、rs6692670、rs1494858、rs12726082、rs1029201、rs11162963、rs77858554、rs1298129、rs10874179、rs1426785、rs1590692、rs13375219、rs10874267、rs11163401、rs11163452、rs3904012、rs9658973、rs7532665、rs401537、rs28613253、rs12122027、rs11163825、rs663136、rs12565896、rs1857931、rs2911589、rs818520、rs625045、rs11161535、rs2474123、rs418979、rs2795038、rs12136355、rs2791519、rs35446447、rs6576899、rs305415、rs1413527、rs2390441、rs2207286、rs9970047、rs7541301、rs9628688、rs716749、rs2153187、rs1938033、rs6679971、rs1156495、rs1336878、rs10801828、rs12041700、rs384642、rs282056、rs937848、rs284185、rs9887935、rs6681345、rs10874759、rs7525248、rs1417885、rs7518940、rs2224254、rs12044374、rs4148055、rs1772914、rs6541376、rs1998683、rs12565143、rs2781162、rs6663724、rs504399、rs11165643、rs6683691、rs6593634、rs12563828、rs11165922、rs12751197、rs182622、rs11802102、rs1551518、rs6577371、rs1343303、rs7534719、rs2640911、rs1414416、rs1887101、rs7535288、rs11164177、rs12562987、rs6577278、rs11164374、rs11164433、rs12142628、rs7521799、rs1591637、rs1930191、rs2065189、rs12723426、rs11184208、rs10881187、rs7550524、rs12126523、rs1617509、rs791003、rs1360739、rs1411397、rs12567271、rs7553752、rs4593852、rs34371858、rs7528153、rs345269、rs11185295、rs6604125、rs9697383、rs647294、rs12027996、rs638820、rs11102017、rs7527375、rs4498805、rs6537672、rs559051、rs1295983、rs10857884、rs575208、rs197413、rs3008538、rs1837502、rs2488779、rs12126277、rs4446964、rs1216781、rs12118048、rs7522138、rs2476604、rs561615、rs581313、rs7553926、rs360684、rs1286225、rs4144396、rs1942229、rs10923418、rs10733105、rs4839060、rs1414273、rs10923181、rs10458412、rs7537915、rs7549770、rs667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