Communicating regulatory high-throughput sequencing data using BioCompute Objects |
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Institution: | 1. The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA;2. The McCormick Genomic and Proteomic Center, The George Washington University, Washington, DC 20037, USA;3. DDL Diagnostic Laboratory, 2288 ER Rijswijk, the Netherlands;4. US Food and Drug Administration, Silver Spring, MD 20993, USA |
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Abstract: | This project demonstrates the use of the IEEE 2791–2020 Standard (BioCompute Objects BCO]) to enable the complete and concise communication of results from next generation sequencing (NGS) analysis. One arm of a clinical trial was replicated using synthetically generated data made to resemble real biological data and then two independent analyses were performed. The first simulated a pharmaceutical regulatory submission to the US Food and Drug Administration (FDA) including analysis of results and a BCO. The second simulated an FDA review that included an independent analysis of the submitted data. Of the 118 simulated patient samples generated, 117 (99.15%) were in agreement in the two analyses. This process exemplifies how a template BCO (tBCO), including a verification kit, facilitates transparency and reproducibility, thereby reinforcing confidence in the regulatory submission process. |
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Keywords: | Next generation sequencing (NGS) Regulatory submission BioCompute Objects HCV1a Antiviral resistance Single nucleotide polymorphism (SNP) Amino acid substitutions |
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