Genomic reproducibility in the bioinformatics era

Author:

Baykal Pelin IcerORCID,Łabaj Paweł PiotrORCID,Markowetz FlorianORCID,Schriml Lynn M.ORCID,Stekhoven Daniel J.ORCID,Mangul SergheiORCID,Beerenwinkel NikoORCID

Abstract

AbstractIn biomedical research, validating a scientific discovery hinges on the reproducibility of its experimental results. However, in genomics, the definition and implementation of reproducibility remain imprecise. We argue that genomic reproducibility, defined as the ability of bioinformatics tools to maintain consistent results across technical replicates, is essential for advancing scientific knowledge and medical applications. Initially, we examine different interpretations of reproducibility in genomics to clarify terms. Subsequently, we discuss the impact of bioinformatics tools on genomic reproducibility and explore methods for evaluating these tools regarding their effectiveness in ensuring genomic reproducibility. Finally, we recommend best practices to improve genomic reproducibility.

Funder

National Science Foundation

National Institutes of Health

Swiss Federal Institute of Technology Zurich

Publisher

Springer Science and Business Media LLC

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