ASHG 2022, Los Angeles, CA
Developing a high-quality, sample-to-result Hereditary Breast and Ovarian Cancer Panel Assay Pipeline for using a novel sequencing platform.
A. Bhattacharjee1, G. Liu1, E. Frise1, S. Kruglyak2, B. Lajoie2, K. Blease2, J. Zhao2, M. Reese1, S. Levy2.
1Fabric Genomics, Oakland, CA; 2Element Biosciences, San Diego, CA
Hereditary Breast and Ovarian Cancer (HBOC) testing has remained inadequate, plagued by medical history– based testing, high test cost, and challenges in NGS data quality. This has led to a model of centralized testing on high-throughput sequencers that always do not fit well with independent clinical testing. We explore herein alternative solutions and improvement approaches.