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Motivation: To analyze the relative proportion of bioinformatics papers and their nonbioinformatics counterparts in the top 20 most cited papers annually for the past two decades. Results: When defining bioinformatics papers as encompassing both those that provide software for data analysis or methods underlying data analysis software, we find that over the past two decades, more than a third (34%) of the most cited papers in science were bioinformatics papers, which is approximately a 31-fold enrichment relative to the total number of bioinformatics papers published. More than half of the most cited papers during this span were bioinformatics papers. Yet, the average 5-year JIF of top 20 bioinformatics papers was 7.7, whereas the average JIF for top 20 non-bioinformatics papers was 25.8, significantly higher (P<4.5 x 10-29). The 20-year trend in the average JIF between the two groups suggests the gap does not appear to be significantly narrowing. For a sampling of the journals producing top papers, bioinformatics journals tended to have higher Gini coefficients, suggesting that development of novel bioinformatics resources may be somewhat 'hit or miss'. That is, relative to other fields, bioinformatics produces some programs that are extremely widely adopted and cited, yet there are fewer of intermediate success. [ABSTRACT FROM AUTHOR]

The article provides information about the 23rd European Conference on Computational Biology (ECCB2024) held in Turku, Finland. The conference focuses on data and algorithms for health and science and attracts scientists and industry professionals from various disciplines. It showcases cutting-edge developments in computational biology, including systems biology, artificial intelligence, single-cell and spatial technologies, and data integration. The conference features keynote lectures, scientific debates, poster presentations, workshops, and tutorials. The ECCB2024 proceedings include 24 papers selected through a peer-review process, and the conference promotes gender equity and adheres to a code of conduct to ensure a safe and respectful environment for all attendees. [Extracted from the article]

Motivation In the modern era of genomic research, the scientific community is witnessing an explosive growth in the volume of published findings. While this abundance of data offers invaluable insights, it also places a pressing responsibility on genetic professionals and researchers to stay informed about the latest findings and their clinical significance. Genomic variant interpretation is currently facing a challenge in identifying the most up-to-date and relevant scientific papers, while also extracting meaningful information to accelerate the process from clinical assessment to reporting. Computer-aided literature search and summarization can play a pivotal role in this context. By synthesizing complex genomic findings into concise, interpretable summaries, this approach facilitates the translation of extensive genomic datasets into clinically relevant insights. Results To bridge this gap, we present VarChat (varchat.engenome.com), an innovative tool based on generative AI, developed to find and summarize the fragmented scientific literature associated with genomic variants into brief yet informative texts. VarChat provides users with a concise description of specific genetic variants, detailing their impact on related proteins and possible effects on human health. In addition, VarChat offers direct links to related scientific trustable sources, and encourages deeper research. Availability and implementation varchat.engenome.com. [ABSTRACT FROM AUTHOR]

Correctness of bioinformatics workflows. Copyright of Bioinformatics is the property of Oxford University Press / USA and its content May not be copied or emailed to multiple sites or posted to a listserv without the copyright. [Extracted from the article]

This editorial describes the selection process and the collection of articles selected for presentation for the Proceedings Track of the ISMB 2024 conference. [ABSTRACT FROM AUTHOR]

The article presents a list of ISMB/ECCB 2019 proceedings papers committee members including Yana Bromberg and Nadia El-Mabrouk as proceedings co-chairs; and Anne Rosenwald as area chair.

Motivation Reconstructing evolutionary histories of biological entities, such as genes, cells, organisms, populations, and species, from phenotypic and molecular sequencing data is central to many biological, palaeontological, and biomedical disciplines. Typically, due to uncertainties and incompleteness in data, the true evolutionary history (phylogeny) is challenging to estimate. Statistical modelling approaches address this problem by introducing and studying probability distributions over all possible evolutionary histories, but can also introduce uncertainties due to misspecification. In practice, computational methods are deployed to learn those distributions typically by sampling them. This approach, however, is fundamentally challenging as it requires designing and implementing various statistical methods over a space of phylogenetic trees (or treespace). Although the problem of developing statistics over a treespace has received substantial attention in the literature and numerous breakthroughs have been made, it remains largely unsolved. The challenge of solving this problem is 2-fold: a treespace has nontrivial often counter-intuitive geometry implying that much of classical Euclidean statistics does not immediately apply; many parametrizations of treespace with promising statistical properties are computationally hard, so they cannot be used in data analyses. As a result, there is no single conventional method for estimating even the most fundamental statistics over any treespace, such as mean and variance, and various heuristics are used in practice. Despite the existence of numerous tree summary methods to approximate means of probability distributions over a treespace based on its geometry, and the theoretical promise of this idea, none of the attempts resulted in a practical method for summarizing tree samples. Results In this paper, we present a tree summary method along with useful properties of our chosen treespace while focusing on its impact on phylogenetic analyses of real datasets. We perform an extensive benchmark study and demonstrate that our method outperforms currently most popular methods with respect to a number of important 'quality' statistics. Further, we apply our method to three empirical datasets ranging from cancer evolution to linguistics and find novel insights into corresponding evolutionary problems in all of them. We hence conclude that this treespace is a promising candidate to serve as a foundation for developing statistics over phylogenetic trees analytically, as well as new computational tools for evolutionary data analyses. Availability and implementation An implementation is available at https://github.com/bioDS/Centroid-Code. [ABSTRACT FROM AUTHOR]

Motivation Software is vital for the advancement of biology and medicine. Impact evaluations of scientific software have primarily emphasized traditional citation metrics of associated papers, despite these metrics inadequately capturing the dynamic picture of impact and despite challenges with improper citation. Results To understand how software developers evaluate their tools, we conducted a survey of participants in the Informatics Technology for Cancer Research (ITCR) program funded by the National Cancer Institute (NCI). We found that although developers realize the value of more extensive metric collection, they find a lack of funding and time hindering. We also investigated software among this community for how often infrastructure that supports more nontraditional metrics were implemented and how this impacted rates of papers describing usage of the software. We found that infrastructure such as social media presence, more in-depth documentation, the presence of software health metrics, and clear information on how to contact developers seemed to be associated with increased mention rates. Analysing more diverse metrics can enable developers to better understand user engagement, justify continued funding, identify novel use cases, pinpoint improvement areas, and ultimately amplify their software's impact. Challenges are associated, including distorted or misleading metrics, as well as ethical and security concerns. More attention to nuances involved in capturing impact across the spectrum of biomedical software is needed. For funders and developers, we outline guidance based on experience from our community. By considering how we evaluate software, we can empower developers to create tools that more effectively accelerate biological and medical research progress. Availability and implementation More information about the analysis, as well as access to data and code is available at https://github.com/fhdsl/ITCR_Metrics_manuscript_website. [ABSTRACT FROM AUTHOR]

Motivation Biological background knowledge plays an important role in the manual quality assurance (QA) of biological database records. One such QA task is the detection of inconsistencies in literature-based Gene Ontology Annotation (GOA). This manual verification ensures the accuracy of the GO annotations based on a comprehensive review of the literature used as evidence, Gene Ontology (GO) terms, and annotated genes in GOA records. While automatic approaches for the detection of semantic inconsistencies in GOA have been developed, they operate within predetermined contexts, lacking the ability to leverage broader evidence, especially relevant domain-specific background knowledge. This paper investigates various types of background knowledge that could improve the detection of prevalent inconsistencies in GOA. In addition, the paper proposes several approaches to integrate background knowledge into the automatic GOA inconsistency detection process. Results We have extended a previously developed GOA inconsistency dataset with several kinds of GOA-related background knowledge, including GeneRIF statements, biological concepts mentioned within evidence texts, GO hierarchy and existing GO annotations of the specific gene. We have proposed several effective approaches to integrate background knowledge as part of the automatic GOA inconsistency detection process. The proposed approaches can improve automatic detection of self-consistency and several of the most prevalent types of inconsistencies.   This is the first study to explore the advantages of utilizing background knowledge and to propose a practical approach to incorporate knowledge in automatic GOA inconsistency detection. We establish a new benchmark for performance on this task. Our methods may be applicable to various tasks that involve incorporating biological background knowledge. Availability and implementation https://github.com/jiyuc/de-inconsistency. [ABSTRACT FROM AUTHOR]

Motivation: The biological literature is a major repository of knowledge. Many biological databases draw much of their content from a careful curation of this literature. However, as the volume of literature increases, the burden of curation increases. Text mining may provide useful tools to assist in the curation process. To date, the lack of standards has made it impossible to determine whether text mining techniques are sufficiently mature to be useful. Results: We report on a Challenge Evaluation task that we created for the Knowledge Discovery and Data Mining (KDD) Challenge Cup. We provided a training corpus of 862 articles consisting of journal articles curated in FlyBase, along with the associated lists of genes and gene products, as well as the relevant data fields from FlyBase. For the test, we provided a corpus of 213 new ('blind') articles; the 18 participating groups provided systems that flagged articles for curation, based on whether the article contained experimental evidence for gene expression products. We report on the evaluation results and describe the techniques used by the top performing groups. Contact: asy@mitre.org Keywords: text mining, evaluation, curation, genomics, data management [ABSTRACT FROM AUTHOR]