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Activity Number: 524 - Recent Advances in Methods for Genomic Data Analysis
Type: Contributed
Date/Time: Thursday, August 11, 2022 : 8:30 AM to 10:20 AM
Sponsor: Section on Statistics in Genomics and Genetics
Abstract #323686
Title: BBQ: Better Base Qualities for Next-Generation Sequencing
Author(s): Wenyu Gao* and Jeffrey Miller and Robert Klein and Philipp Hähnel and Scott Carter
Companies: Harvard University and Harvard TH Chan School of Public Health and Department of Data Science, Dana-Farber Cancer Institute and Department of Data Science, Dana-Farber Cancer Institute and Department of Data Science, Dana-Farber Cancer Institute
Keywords: Better Base Quality (BBQ); Calibration; Cancer Detection; PCR Errors; Sequencing Errors
Abstract:

Despite the ubiquitous application of massively parallel "next generation" sequencing, detailed error models describing read-level error probabilities are lacking for all but specialized applications. In this talk, we present a novel base-quality recalibration method (BBQ) with demonstrated improvements in calibration performance over current state-of-the-art methods. The BBQ method relies on training a statistical model for both PCR-based library creation and sequencing-synthesis errors using large numbers of observed errors of each type. We evaluate the performance of BBQ in terms of sensitivity and specificity for the detection of minimal residual disease in cancer recurrence monitoring.


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