CLIN CHEM:等位基因特异性液滴数字PCR结合下一代基于测序的算法用于高同源性基因诊断拷贝数分析

2018-04-04 MedSci MedSci原创

拷贝数变异(CNV)在几种疾病基因中对致病变异谱发挥重要作用。这种类型变异体检测受到具有高度同源性的其他基因组序列的干扰,但同时,这样的基因组区域更可能导致CNV,这使得在实际应用中解决这一检测问题至关重要。研究人员针对高同源性基因/区域开发了一种拷贝数分析方法,该方法包括基于新一代测序(NGS)的剂量分析以及等位基因特异性液滴数字PCR(ddPCR)测试。将这种方法应用于STRC中的拷贝数分析,

拷贝数变异(CNV)在几种疾病基因中对致病变异谱发挥重要作用。这种类型变异体检测受到具有高度同源性的其他基因组序列的干扰,但同时,这样的基因组区域更可能导致CNV,这使得在实际应用中解决这一检测问题至关重要。研究人员针对高同源性基因/区域开发了一种拷贝数分析方法,该方法包括基于新一代测序(NGS)的剂量分析以及等位基因特异性液滴数字PCR(ddPCR)测试。将这种方法应用于STRC中的拷贝数分析,该基因与无功能假基因pSTRC具有98.9%的同源性,并通过使用已知样品鉴定其在检测不同拷贝数状态中的准确性。结果显示,使用517例听力丧失患者队列,研究人员​​前瞻性地证实了该方法的临床应用,该方法将整体诊断率从17.6%增加至23.6%。阳性STRC基因型包括纯合子(n = 15)或复合杂合子(n = 8)缺失或与致病序列变体(n = 7)反式杂合子缺失。最后,这种方法将ddPCR测试限于具有NGS拷贝数发现的病例,因此显着减少了昂贵且费力的ddPCR测试的数量,尽管ddPCR具有特异性。研究表明,基于NGS的CNV检测并随后进行等位基因特异性ddPCR验证,用于在具有同源性问题的医学相关

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    2018-04-06 Tommy1950
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    2018-04-04 李东泽

    很好的学习材料.对临床和科研都有很大帮助作用.水滴石穿.不断积累.

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=1992002, encodeId=7848199200275, content=<a href='/topic/show?id=d4f0e5890e9' target=_blank style='color:#2F92EE;'>#等位基因特异性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=75890, encryptionId=d4f0e5890e9, topicName=等位基因特异性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec37461, createdName=szhvet, createdTime=Sat Mar 02 09:00:00 CST 2019, time=2019-03-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1899209, encodeId=de7b189920921, content=<a href='/topic/show?id=6f746e94170' target=_blank style='color:#2F92EE;'>#特异性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67941, encryptionId=6f746e94170, topicName=特异性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dc7a157, createdName=jinweidong, createdTime=Mon Dec 24 20:00:00 CST 2018, time=2018-12-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1983905, encodeId=3c5f198390598, content=<a href='/topic/show?id=3a375629858' target=_blank style='color:#2F92EE;'>#拷贝数#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56298, encryptionId=3a375629858, topicName=拷贝数)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3eaf430, createdName=bsmagic9132, createdTime=Thu Jan 10 05:00:00 CST 2019, time=2019-01-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1419400, encodeId=aaed1419400f5, content=<a href='/topic/show?id=e290138682e' target=_blank style='color:#2F92EE;'>#PCR#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13868, encryptionId=e290138682e, topicName=PCR)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9cc43496966, createdName=Tommy1950, createdTime=Fri Apr 06 02:00:00 CST 2018, time=2018-04-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1484146, encodeId=ae98148414681, content=<a href='/topic/show?id=d2fbe588905' target=_blank style='color:#2F92EE;'>#等位基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=75889, encryptionId=d2fbe588905, topicName=等位基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=68e17955541, createdName=luckyshitiancai_42705686, createdTime=Fri Apr 06 02:00:00 CST 2018, time=2018-04-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1625750, encodeId=c1271625e50cd, content=<a href='/topic/show?id=5ee3418991a' target=_blank style='color:#2F92EE;'>#基因诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41899, encryptionId=5ee3418991a, topicName=基因诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=fdc920855274, createdName=zzc2218, createdTime=Fri Apr 06 02:00:00 CST 2018, time=2018-04-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=302674, encodeId=47613026e4e7, content=很好的学习材料.对临床和科研都有很大帮助作用.水滴石穿.不断积累., beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Wed Apr 04 11:13:12 CST 2018, time=2018-04-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=302667, encodeId=984230266ec5, content=阅, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/fhZdOu27e88Voqh19n8eF8cLplo8L4nicKtH0WnE3KFELXns5XDu8rsiceK2HHDZc2SEStia5VV3Pia2QLMVqlWbHw/0, createdBy=6e012139475, createdName=神功盖世, createdTime=Wed Apr 04 11:07:15 CST 2018, time=2018-04-04, status=1, ipAttribution=)]
    2018-04-04 神功盖世

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