Data Analysis Summary - Cancer Diagnosis Program数据分析总结癌症诊断程序.pptVIP

Data Analysis Summary Elephant in the room General Comments General understanding that informatics is integral in medical sequencing and other –omics in clinical settings About 80% of attendees were actively involved in data analysis Clinical practitioners also present Talking about data analysis is difficult We do not yet have language to do so Complicated Not clear what details are important Overview Analytical Validity Enhance Clinical Utility Data Sharing Messages to NCI Analytical Validity Definition of “mutation”, both at the level of variant calling and with “established” calls, remains unclear Reproducible analytical methods in both research and clinical practice needed Versioning of raw data and processed data Versioning of data analysis pipelines Versioning of auxiliary data (gene models, sequences, etc.) Analytical Validity Understanding that algorithms that use all the information (tumor/normal or multiple tumor samples) yields higher sensitivity and specificity Data archiving and sharing becomes important Archiving blocks is not enough—best to archive data as well Need to provide confidence associated with variants since no test is 100% accurate Analytical Validity “Reference” genome A computational reference is important to allow communication of findings Lack of adequate ground-truth datasets precludes rigorous evaluation of analysis, particularly in quantifying false-negative rate Tumor heterogeneity, tissue heterogeneity, and even stochastic sampling at the sample level remain challenges in establishing analytical validity Enhance Clinical Utilty Lacking large (10s of thousands of patients), well-annotated databases of normal or disease patients Definition of clinically actionable remains unclear Reference database of clinically actionable variants Does not exist Will be challenging to update and maintain Incorporating clinical context is difficult but probably necessary if one is to truly achieve precision medicine Enhance Clinical Utility Establis