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使用人类甲基化EPIC v1芯片进行高通量DNA甲基化测量的质量控制检查点:在福尔马林固定石蜡包埋前列腺组织中的应用

Quality control checkpoints for high throughput DNA methylation measurement using the human MethylationEPICv1 array: application to formalin-fixed paraffin embedded prostate tissue.

作者信息

O'Reilly Robert L, Hammet Fleur, O'Callaghan Neil, MacInnis Robert J, Bolton Damien, Giles Graham G, Dugué Pierre-Antoine, Southey Melissa C

机构信息

Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.

Victorian Heart Institute, Monash University, Clayton, VIC, 3168, Australia.

出版信息

BMC Res Notes. 2025 Jul 9;18(1):280. doi: 10.1186/s13104-025-07221-3.

DOI:10.1186/s13104-025-07221-3
PMID:40635041
Abstract

OBJECTIVE

The performance of FFPE tissue-derived DNA on the MethylationEpicV1.0 array can be unpredictable as the protocol only has two quality checks; checkpoint 1 for DNA quantity and checkpoint 2 for DNA quality assessment. We sought to incorporate a third, previously developed bisulfite conversion quality check prior to processing 255 FFPE tissue derived DNA samples.

RESULTS

FFPE tissue-derived DNAs were prepared for 255 prostate tumour specimens and four controls. Checkpoint 1 assessed all samples to have 500ng DNA available for analysis except for two samples that yielded 483 and 486ng. All DNA samples passed both the quality checkpoint 2 and the bisulfite conversion quality assessment checkpoint 3. Assessment of array performance showed one of the 259 (0.4%) DNA samples had less than 90% of probes detected at p = 0.05. Controls and replicate showed reliable reproducibility with correlations of 0.981 and 0.994. High quantity and quality measures of the FFPE tissue-derived DNAs (assessed by checkpoint 1 and 2) were likely responsible for 99.6% of DNAs producing high quality EPIC array data. This report suggests that checkpoint 3 has limited value in a setting where the FFPE tissue derived DNA has high quantity and quality measures.

摘要

目的

福尔马林固定石蜡包埋(FFPE)组织来源的DNA在MethylationEpicV1.0阵列上的表现可能不可预测,因为该方案仅有两项质量检查;检查点1用于检测DNA数量,检查点2用于评估DNA质量。我们试图在处理255份FFPE组织来源的DNA样本之前,纳入此前开发的第三项亚硫酸氢盐转化质量检查。

结果

为255份前列腺肿瘤标本和4份对照样本制备了FFPE组织来源的DNA。检查点1评估所有样本均有500ng DNA可用于分析,只有两份样本分别产生了483ng和486ng。所有DNA样本均通过了质量检查点2和亚硫酸氢盐转化质量评估检查点3。阵列性能评估显示,259份(0.4%)DNA样本中有一份在p = 0.05时检测到的探针少于90%。对照样本和重复样本显示出可靠的重复性,相关性分别为0.981和0.994。FFPE组织来源的DNA的高数量和高质量指标(通过检查点1和2评估)可能是99.6%的DNA产生高质量EPIC阵列数据的原因。本报告表明,在FFPE组织来源的DNA具有高数量和高质量指标的情况下,检查点3的价值有限。

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本文引用的文献

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