Communicating regulatory high-throughput sequencing data using BioCompute Objects

Authors

Charles Hadley King, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA; The McCormick Genomic and Proteomic Center, The George Washington University, Washington, DC 20037, USA.
Jonathon Keeney, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA.
Nuria Guimera, DDL Diagnostic Laboratory, 2288 ER Rijswijk, the Netherlands.
Souvik Das, DDL Diagnostic Laboratory, 2288 ER Rijswijk, the Netherlands.
Michiel Weber, DDL Diagnostic Laboratory, 2288 ER Rijswijk, the Netherlands.
Brian Fochtman, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA.
Mark O. Walderhaug, US Food and Drug Administration, Silver Spring, MD 20993, USA.
Sneh Talwar, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA.
Janisha A. Patel, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA.
Raja Mazumder, The Department of Biochemistry & Molecular Medicine, The George Washington University Medical Center, Washington, DC 20037, USA; The McCormick Genomic and Proteomic Center, The George Washington University, Washington, DC 20037, USA.
Eric F. Donaldson, US Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: Eric.Donaldson@fda.hhs.gov.

Document Type

Journal Article

Publication Date

1-22-2022

Journal

Drug discovery today

DOI

10.1016/j.drudis.2022.01.007

Keywords

Amino acid substitutions; Antiviral resistance; BioCompute Objects; HCV1a; Next generation sequencing (NGS); Regulatory submission; Single nucleotide polymorphism (SNP)

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.

APA Citation

King, Charles Hadley; Keeney, Jonathon; Guimera, Nuria; Das, Souvik; Weber, Michiel; Fochtman, Brian; Walderhaug, Mark O.; Talwar, Sneh; Patel, Janisha A.; Mazumder, Raja; and Donaldson, Eric F., "Communicating regulatory high-throughput sequencing data using BioCompute Objects" (2022). GW Authored Works. Paper 235.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/235

Department

Biochemistry and Molecular Medicine