O'Reilly Robert L, Hammet Fleur, O'Callaghan Neil, MacInnis Robert J, Bolton Damien, Giles Graham G, Dugué Pierre-Antoine, Southey Melissa C
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.
Victorian Heart Institute, Monash University, Clayton, VIC, 3168, Australia.
BMC Res Notes. 2025 Jul 9;18(1):280. doi: 10.1186/s13104-025-07221-3.
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.
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.
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。
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。