【技术实现步骤摘要】
用于判断样本配对或污染的位点组合及其应用
[0001]相关专利
[0002]本申请是申请号为2022110646804，申请日为2022年09月01日，专利技术名称为“用于判断样本配对或污染的位点组合及其筛选方法和应用”的中国专利技术专利申请的分案申请。
[0003]本专利技术属于生物信息
，具体地，涉及用于判断样本配对或污染的位点组合及其应用。
技术介绍
[0004]随着高通量测序成本的降低，分析样本数量逐渐增多，导致样品混淆和污染的机会增大。典型的肿瘤样本检测工作流程复杂，从样本信息录入，湿实验各步骤，到最终的数据分析都可能引起样本污染。癌症研究经常联合分析匹配的“肿瘤
‑
正常”样本，以检测肿瘤中存在的体细胞突变。即使在肿瘤样本中出现非常低的跨个体污染，也可能引入许多低等位基因频率的等位基因变异，这些变异会被体细胞变异调用算法解释为体细胞变异，导致特异性大大降低。检测样本混淆和污染是关键的质量控制步骤，会影响肿瘤检测的准确性，应在每个体细胞分析之前进行。
[0005]目前的评估样本污染的方法包括VerifyBamID、ContEst、Conpair等，这些方法均只适用于配对样，其中Conpair方法可评估低至0.1％的污染。配对样本均污染时，不能准确评估是否污染。
技术实现思路
[0006]为了解决上述技术问题中的至少一个，本专利技术采用的技术方案如下：
[0007]本专利技术第一方面提供一种用于判断样本是否配对和/或是否存在污染的位点的筛选...
【技术保护点】
【技术特征摘要】
1.一种用于判断样本是否配对和/或是否存在污染的位点组合，其特征在于，所述位点组合包括如下SNP位点：rs2234161、rs13429049、rs3796164、rs2240780、rs1526083、rs466994、rs648387、rs17655、rs11574480、rs2240308、rs1057079、rs2228014、rs2335052、rs740750、rs76436625、rs2070113、rs3758862、rs12853546、rs2291011、rs2302233、rs12063905、rs13387241、rs1573858、rs3830032、rs10263573、rs1056171、rs79978663、rs3742210、rs3825941、rs1042667、rs3754334、rs4444457、rs635721、rs3830035、rs3815221、rs1076160、rs10895417、rs9604573、rs1560975、rs2071654、rs12059454、rs4954672、rs7644369、rs1966265、rs7794637、rs75802666、rs501413、rs1130409、rs17273206、rs3744037、rs2067053、rs78366782、rs3732567、rs351855、rs6977407、rs1805352、rs3740942、rs1049564、rs3815003、rs901065、rs3917981、rs4954852、rs1042787、rs28580074、rs6959712、rs1536475、rs664677、rs1130650、rs2227933、rs2306690、rs2275471、rs13382825、rs2270881、rs9392904、rs3829814、rs1805343、rs562780、rs2284651、rs2227934、rs12944923、rs3219489、rs17575847、rs11717042、rs1050775、rs740949、rs75842134、rs2298650、rs7157716、rs1063147、rs4969429、rs785468、rs1429365、rs2305268、rs16871074、rs2072407、rs2229971、rs521102、rs2069540、rs2293117、rs3829572、rs1707303、rs13007735、rs2227931、rs3734404、rs2302427、rs62579232、rs35195224、rs2230505、rs2593053、rs3751945、rs12030928、rs13413663、rs77504578、rs16871236、rs10274535、rs7852970、rs2229351、rs2273813、rs2301522、rs3751936、rs1048771、rs9973397、rs2699896、rs3752418、rs28723387、rs2229360、rs11062385、rs8904、rs1805105、rs28722141、rs1137100、rs4264514、rs3729679、rs3752416、rs17635434、rs12267460、rs4980885、rs1957106、rs7187438、rs3786348、rs13306519、rs12990449、rs796406、rs9405048、rs66628686、rs7073837、rs3759371、rs11624339、rs3810812、rs3737378、rs3736909、rs1375610、rs11925959、rs1051130、rs3757422、rs7896005、rs6413436、rs79519281、rs129982、rs1042769、rs2735594、rs3106796、rs3732577、rs3024997、rs6464211、rs2273773、rs7303748、rs2230499、rs12051375、rs1791235、rs7556439、rs788023、rs59852126、rs3025000、rs10252263、rs714887、rs11611479、rs2230500、rs254942、rs73454598、rs1627787、rs3769823、rs266720、rs1130809、rs7834206、rs1058932、rs17210957、rs2230501、rs1799801、rs3819162、rs2066411、rs1045487、rs1056932、rs345730、rs4733376、rs2275622、rs17847788、rs1088680、rs2280764、rs8095411、rs1800601、rs3769818、rs28673064、rs901455、rs1488935、rs3740066、rs11044057、rs2057482、rs2075514、rs2229080、rs6334、rs231775、rs1345186、rs345713、rs16887325、rs3824756、rs11044211、rs2277500、rs11644832、rs2276204、rs1801274、rs13002712、rs3135890、rs1010273、rs4647907、rs2001389、rs2306283、rs17834971、rs2272552、rs2298654、rs4466634、rs6757068、rs6811325、rs3778650、rs2305558、rs17114803、rs7956824、rs56104115、rs249954、rs2298606、rs2290854、rs16852600、rs999020、rs1033572、rs11545077、rs12414407、rs6488091、rs8023214、rs7193297、rs1431195、rs747659、rs2229571、rs1008658、rs6907567、rs1800909、rs10883841、rs10772008、rs2239610、rs2279349、rs1502229、
rs1136410、rs2070096、rs2219471、rs714368、rs34854177、rs77961654、rs2271194、rs2241119、rs1800355、rs2270952、rs907187、rs13010249、rs7655964、rs3730353、rs12544121、rs1047057、rs2292238、rs2075179、rs11076620、rs2270953、rs2230656、rs4673993、rs7349683、rs581235、rs4260880、rs2278202、rs2271189、rs3783942、rs17232910、rs57115850、rs1188474、rs12720063、rs2198104、rs9481703、rs1160174、rs12252、rs697221、rs3783941、rs2074963、rs28740963、rs10802607、rs11686067、rs2231157、rs2243384、rs3793379、rs12628、rs2069502、rs1991517、rs2304906、rs11663656、rs10925391、rs1801123、rs1982965、rs1535330、rs3829023、rs3213225、rs2270777、rs2297730、rs2285579、rs3764640、rs10754602、rs2227982、rs2303740、rs2243、rs61753704、rs760419、rs547497、rs2494748、rs8067806、rs2075606、rs2618713、rs3856806、rs13167280、rs3799488、rs940664、rs204930、rs2071629、rs2494749、rs2952976、rs3815308、rs2779430、rs1870134、rs2736098、rs661561、rs940665、rs2303972、rs2301610、rs2280738、rs2905880、rs2302061、rs10802626、rs1155705、rs2287584、rs3924871、rs3750225、rs1799937、rs11066315、rs73376010、rs2285892、rs3746132、rs12563366、rs11466512、rs6885959、rs3798761、rs3750227、rs16754、rs7971249、rs12595504、rs2066736、rs3746130、rs684923、rs2228048、rs3763075、rs12174349、rs2292781、rs2295081、rs1076205、rs7182445、rs9894648、rs4807017、rs1042034、rs6599230、rs7735863、rs2077647、rs2279776、rs2234585、rs2285679、rs3751526、rs2285894、rs4807703、rs676210、rs4135385、rs16901229、rs180...
【专利技术属性】
技术研发人员：严自创，周雍，蔡庆乐，郎秋蕾，张梦莹，
申请(专利权)人：杭州链康医学检验实验室有限公司，
类型：发明
国别省市：
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