Spencer S. Hong

State-supported research funding agencies are critical to the scientific enterprise. However, it remains unclear how funding agencies cooperate with academic communities to realize common scientific goals. Here, we present a fully digital archive assembled by the National Human Genome Research Institute (NHGRI), focusing on the nascent stages of “genomics” as a scientific field and the everyday workings of the Human Genome Project and subsequent major genomics projects. We identify early events behind the conception of genome-wide association studies, clarify hitherto obscured factors around funding decisions, and how NHGRI and academics outside NHGRI ensured continuity in technical expertise across projects. The computational models we developed correctly recapitulate how academic experts and NHGRI increased adoption of genomics by jointly deciding which organisms’ genomes to sequence. Taken together, these findings reveal how a funding agency contributed to scientific innovation in a nascent field of science by repeatedly cooperating with the broader scientific community.

Science is characterized by collaboration and cooperation, but also by uncertainty, competition, and inequality. While there has always been some concern that these pressures may compel some to defect from the scientific research ethos—i.e., fail to make genuine contributions to the production of knowledge or to the training of an expert workforce—the focus has largely been on the actions of lone individuals. Recently, however, reports of coordinated scientific fraud activities have increased. Some suggest that the ease of communication provided by the internet and open-access publishing have created the conditions for the emergence of entities—paper mills (i.e., sellers of mass-produced low quality and fabricated research), brokers (i.e., conduits between producers and publishers of fraudulent research), predatory journals, who do not conduct any quality controls on submissions—that facilitate systematic scientific fraud. Here, we demonstrate through case studies that i) individuals have cooperated to publish papers that were eventually retracted in a number of journals, ii) brokers have enabled publication in targeted journals at scale, and iii), within a field of science, not all subfields are equally targeted for scientific fraud. Our results reveal some of the strategies that enable the entities promoting scientific fraud to evade interventions. Our final analysis suggests that this ability to evade interventions is enabling the number of fraudulent publications to grow at a rate far outpacing that of legitimate science.

Understanding “how to optimize the production of scientific knowledge” is paramount to those who support scientific research—funders as well as research institutions—to the communities served, and to researchers. Structured archives can help all involved to learn what decisions and processes help or hinder the production of new knowledge. Using artificial intelligence (AI) and large language models (LLMs), we recently created the first structured digital representation of the historic archives of the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. This work yielded a digital knowledge base of entities, topics, and documents that can be used to probe the inner workings of the Human Genome Project, a massive international public-private effort to sequence the human genome, and several of its offshoots like The Cancer Genome Atlas (TCGA) and the Encyclopedia of DNA Elements (ENCODE). The resulting knowledge base will be instrumental in understanding not only how the Human Genome Project and genomics research developed collaboratively, but also how scientific goals come to be formulated and evolve. Given the diverse and rich data used in this project, we evaluated the ethical implications of employing AI and LLMs to process and analyze this valuable archive. As the first computational investigation of the internal archives of a massive collaborative project with multiple funders and institutions, this study will inform future efforts to conduct similar investigations while also considering and minimizing ethical challenges. Our methodology and risk-mitigating measures could also inform future initiatives in developing standards for project planning, policymaking, enhancing transparency, and ensuring ethical utilization of artificial intelligence technologies and large language models in archive exploration.Author Contributions: Mohammad Hosseini: Investigation; Project Administration; Writing – original draft; Writing – review & editing. Spencer Hong: Conceptualization, Data curation, Investigation, Methodology, Software, Visualization, Writing – original draft, Writing – review & editing. Thomas Stoeger: Conceptualization; Investigation; Project Administration; Supervision; Writing – original draft; Writing – review & editing. Kristi Holmes: Funding acquisition, Supervision, Writing – review & editing. Luis A. Nunes Amaral: Funding acquisition, Supervision, Writing – review & editing. Christopher Donohue: Conceptualization, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing. Kris Wetterstrand: Conceptualization, Funding acquisition, Project administration.