MICon Contamination Detection Workflow for Next-Generation Sequencing Laboratories Using Microhaplotype Loci and Supervised Learning

Innovation in sequencing instrumentation is increasing the per-batch data volumes and decreasing the per-base costs. Multiplexed chemistry protocols after the addition of index tags have further contributed to efficient and cost-effective sequencer utilization. With these pooled processing strategies, however, comes an increased risk of sample contamination. Sample contamination poses a risk of missing critical variants in a patient sample or wrongly reporting variants derived from the contaminant, which are particularly relevant issues in oncology specimen testing in which low variant allele frequencies have clinical relevance.

Source: Journal of Molecular Diagnostics - May 24, 2023 Category: Pathology Authors: Jagadheshwar Balan, Tejaswi Koganti, Shubham Basu, Michelle A. Dina, Cody J. Artymiuk, Emily G. Barr Fritcher, Katie E. Halverson, Xianglin Wu, Garrett Jenkinson, David S. Viswanatha Tags: Regular articles Source Type: research