The characteristics of early-stage research into human genes are substantially different from subsequent research.

Thomas Stoeger,Luís A. Nunes Amaral,Marcus Munafò

doi:10.1371/journal.pbio.3001520

Abstract

Throughout the last 2 decades, several scholars observed that present day research into human genes rarely turns toward genes that had not already been extensively investigated in the past. Guided by hypotheses derived from studies of science and innovation, we present here a literature-wide data-driven meta-analysis to identify the specific scientific and organizational contexts that coincided with early-stage research into human genes throughout the past half century. We demonstrate that early-stage research into human genes differs in team size, citation impact, funding mechanisms, and publication outlet, but that generalized insights derived from studies of science and innovation only partially apply to early-stage research into human genes. Further, we demonstrate that, presently, genome biology accounts for most of the initial early-stage research, while subsequent early-stage research can engage other life sciences fields. We therefore anticipate that the specificity of our findings will enable scientists and policymakers to better promote early-stage research into human genes and increase overall innovation within the life sciences.

Highlights

A stream of research [1,2,3,4,5,6,7,8,9,10,11,12] has established that research into human genes currently investigates largely those genes that were already well studied in the past
Publications reporting on recent genes targets that had first been highlighted during the 5 preceding years are even approximately 15 percentile points less disruptive (S6D Fig). These results suggest that different phases of early-stage research affect the evolution of the scientific literature differently and align with the observation of research into human genes rarely turning toward novel gene targets [1,2,3,4,5,6,7,8,9,10,11,12]
Comparing the extent to which journals enrich for newly highlighted versus recently highlighted genes, we find that journals dedicated to neurobiology and obesity are enriching for recently highlighted genes to a larger extent than their enrichment for newly highlighted genes (Fig 3C)

Summary

Introduction

A stream of research [1,2,3,4,5,6,7,8,9,10,11,12] has established that research into human genes currently investigates largely those genes that were already well studied in the past. Publications reporting on recent genes targets that had first been highlighted during the 5 preceding years are even approximately 15 percentile points less disruptive (S6D Fig) These results suggest that different phases of early-stage research affect the evolution of the scientific literature differently and align with the observation of research into human genes rarely turning toward novel gene targets [1,2,3,4,5,6,7,8,9,10,11,12]. The characteristics of early-stage research into human genes are different from subsequent research entire genome research (Fig 5E, S16 Fig) By contrast, the latter increase is small when compared to genome-wide association studies, where the chance to be among the 5% most cited publications of a year nearly doubles from approximately 30% for research on old gene targets to around approximately 55% for research on novel gene targets (S16 Fig). We conclude that domain-specific research can contribute to early-stage research, but primarily does so through a handful of genes

Study limitations

Discussion

Literature parsing

Findings

Literature database construction