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Genetic Slip-ups: The Ongoing Hunt for Errors in Scientific Research

A team of researchers have combed through and investigated hundreds of genetics studies, identifying several highly cited studies which contain errors in the DNA or RNA sequences of reagents. The study, published in preprint on bioRxiv, has not yet been peer-reviewed – but nevertheless, evidence of these mistakes in published scientific literature is certainly cause for concern.

Genetic detective

Jennifer Byrne, a cancer genetics researcher at the Children’s Hospital at Westmead in Sydney, Australia, has been searching for errors in genetics research papers since 2015. Her work has led to nine paper retractions (so far) and the development of an online program, Seek & Blastn, which can automatically detect similar problems.

In a study published in August of 2021, Byrne and her team analysed almost 12,000 papers from the journals Gene and Oncology Reports using the Seek & Blastn tool – and found that more than 700 of the experimental reagents in the papers contained errors in their RNA or DNA sequences. In their latest study, they analysed papers published in the high-impact-factor journals Molecular Cancer and Oncogene and found that a worrying proportion of these papers contained nucleotide-sequence errors. The mistakes were found in 92 of the 334 manuscripts examined, with some papers having been cited over 100 times.

An honest mistake?

Scientific studies are conducted by humans – and humans, as we all know, can make mistakes. While errors can be accidental, they might also be indicative of fraud. Some of the reasons behind mistakes in scientific studies include incomplete and inconsistent databases, as seen in circular-RNA research, and a lack of scrutiny during the review process. Additionally, with so much scientific literature available, reviewers cannot be expected to check all aspects of the study, leaving room for mistakes. Finally, there is often “pressure to publish”, particularly in high-impact-factor journals, which could lead to a lack of careful review and oversights.

It’s not just genetics

In the past few years, you may have heard much discussion about the “reproducibility crisis” in scientific research, which undermines the reliability of scientific findings. As a genetic detective, Jennifer Byrne’s work to identify flawed and potentially fraudulent research papers highlights the importance of careful scrutiny in the scientific publishing process. This problem is rife in other fields of scientific research too – in a 2022 study, researchers Sayash Kapoor and Arvind Narayanan assessed the computational reproducibility of 20 reviews across 17 different fields and implicated over 300 studies as not having replicable results. In 2021, a study of high-impact cancer research papers, part of the “Reproducibility Project: Cancer Biology”, found that fewer than half the experiments assessed were reproducible. Even more notable was the news that came out in July 2022 – that a six-month investigation by Science claimed to have uncovered evidence that one of the most cited Alzheimer’s studies in history, may have been fabricated.

As the scientific community continues to grapple with issues of reproducibility and accuracy in research, the need for more careful scrutiny and validation in the scientific publishing process has never been more pressing – and the work of researchers like Jennifer Byrne is a welcome step in the right direction.


More on these topics

Genetics / Genomics / GWAS / repeatability

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