Rational “Error Elimination” Approach to Evaluating Molecular Barcoded Next-Generation Sequencing Data Identifies Low-Frequency Mutations in Hematologic Malignancies

The emergence of highly sensitive molecular diagnostic approaches such as droplet digital PCR has allowed the accurate identification of low-frequency variant alleles in clinical specimens; however, the multiplex capabilities of droplet digital PCR for variant detection are inadequate. The incorporation of molecular barcodes or unique IDs into next-generation sequencing libraries through PCR has enabled the detection of low-frequency variant alleles across multiple genomic regions. However, rational library preparation and sequencing data analytical strategies that integrate molecular barcodes have rarely been applied to clinical settings.

Source: Journal of Molecular Diagnostics - February 20, 2019 Category: Pathology Authors: Saradhi Mallampati, Dzifa Y. Duose, Michael A. Harmon, Meenakshi Mehrotra, Rashmi Kanagal-Shamanna, Stephanie Zalles, Ignacio I. Wistuba, Xiaoping Sun, Rajyalakshmi Luthra Tags: Regular article Source Type: research