本文選題：全外顯子測(cè)序 + 診斷不明病例�。� 參考：《中國循證兒科雜志》2016年02期

【摘要】：目的探索可被臨床醫(yī)生直接應(yīng)用的全外顯子測(cè)序(WES)數(shù)據(jù)分析平臺(tái)及方法。方法選擇復(fù)旦大學(xué)附屬兒科醫(yī)院(我院)臨床診斷不明疾病的核心家系3例(例1～3)和僅先證者2例(例4和5)行WES分析,采用Wu Xi NextCODE臨床測(cè)序數(shù)據(jù)分析系統(tǒng)(簡(jiǎn)稱NextCODE平臺(tái))進(jìn)行快速數(shù)據(jù)分析,并與我院分子診斷中心已建立的高通量數(shù)據(jù)分析流程(簡(jiǎn)稱常規(guī)數(shù)據(jù)分析流程)進(jìn)行參與人員及耗時(shí)的比較。結(jié)果例1～3基于表型相關(guān)候選基因聯(lián)合遺傳模式的分析方法,分別檢測(cè)到FGFR2基因雜合突變、GBE1基因復(fù)合雜合突變及TBX1基因雜合突變;例4和5通過表型相關(guān)候選基因分析,分別檢測(cè)到IL10RA基因純合突變和復(fù)合雜合突變。NextCODE平臺(tái)自動(dòng)完成3/7個(gè)步驟,從輸入表型至生成報(bào)告,WES數(shù)據(jù)分析用時(shí)30 min以內(nèi)。常規(guī)數(shù)據(jù)分析流程自動(dòng)完成1/7個(gè)步驟,6個(gè)人工完成步驟需要多個(gè)專業(yè)人員進(jìn)行數(shù)據(jù)的篩選及解讀,從輸入表型至生成報(bào)告,熟練的專業(yè)人員用時(shí)2～8 h。結(jié)論 5例臨床診斷不明病例通過WES明確了診斷;NextCODE是直接為臨床醫(yī)生所用、簡(jiǎn)單快速的WES數(shù)據(jù)分析平臺(tái),有助于協(xié)助臨床醫(yī)生直接利用高通量測(cè)序數(shù)據(jù),準(zhǔn)確鎖定致病突變,提高診斷效率。
[Abstract]:Objective to explore the data analysis platform and method of total exon sequencing (WES) which can be used directly by clinicians. Methods WES analysis was performed in 3 cases of nuclear family (case 1, 3) and 2 cases of proband only (cases 4 and 5) in pediatrics hospital affiliated to Fudan University (our hospital). Using Wu Xi NextCODE clinical sequencing data analysis system (NextCODE platform) for rapid data analysis, The participants and time consuming were compared with the high throughput data analysis process established by our molecular diagnosis center (referred to as routine data analysis process). Results based on the analysis of phenotypic candidate genes combined with genetic pattern, FGFR2 gene heterozygosity and TBX1 gene heterozygosity were detected in case 1 and 5, respectively. Homozygous mutation of IL10RA gene and compound heterozygosity mutation. NextCODE platform completed 3 / 7 steps automatically, from input phenotype to generating report data analysis within 30 min. The routine data analysis process automatically completes 1 / 7 steps, and 6 manual steps require multiple professionals to screen and interpret the data, from input phenotype to report generation, and the skilled professional takes 2 minutes and 8 hours. Conclusion the diagnosis of NextCODE is a simple and rapid data analysis platform for clinicians by WES. It is helpful for clinicians to use high-throughput sequencing data directly and to lock down the pathogenic mutation accurately. Improve diagnostic efficiency.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院分子診斷中心;明碼(上海)生物科技有限公司;
【基金】：上�？茖W(xué)技術(shù)委員會(huì)/醫(yī)學(xué)領(lǐng)域重點(diǎn)項(xiàng)目子課題:14411950402 上海市衛(wèi)生和計(jì)劃生育委員會(huì)課題:滬衛(wèi)計(jì)科教[2013]018號(hào)
【分類號(hào)】：R725;R440
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本文編號(hào)：2063546