June 1, 2021

The value of long read amplicon sequencing for clinical applications

Author(s): Neveling, K. and Mensenkamp, A. and Heiner, C. and McLaughlin, I. and Harding, J. and Aro, L. and de Bruijn, L. and Askar, E. and van der Heuvel, S. and Hoenselaar, E. and Derks, R. and van der Vorst, M. and Nelen, M. and Vissers, L. and Haer-Wigman, L. and Ouden, A. D. and Ligtenberg, M. and de Over, R.

NGS is commonly used for amplicon sequencing in clinical applications to study genetic disorders and detect disease-causing mutations. This approach can be plagued by limited ability to phase sequence variants and makes interpretation of sequence data difficult when pseudogenes are present. Long-read highly accurate amplicon sequencing can provide very accurate, efficient, high throughput (through multiplexing) sequences from single molecules, with read lengths largely limited by PCR. Data is easy to interpret; phased variants and breakpoints are present within high fidelity individual reads. Here we show SMRT Sequencing of the PMS2 and OPN1 (MW and LW) genes using the Sequel System. Homologous regions make NGS and MLPA results very difficult to interpret.

Organization: PacBio, Radboud University Medical Center
Year: 2019

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