For the past 11 years, the year-in-review (YIR) keynote presentation at the AMIA Informatics summit has been a perennial highlight. We hypothesized that the presented material from these keynotes could be used to assess both the recent trajectory of topics in informatics-especially translational bioinformatics (TBI)-as well as the scientific merit of the crowd-sourced process used to nominate, review, and select the papers presented at the YIR. We compare YIR articles to a background set of non-YIR articles from informatics journals using structured metadata and qualitative thematic analysis, paying specific attention to trends and popularity over time. These trends were inspected both internally (comparing the YIR sessions to each other) and externally (comparing them to the overall content of scientific literature for the same time period). In doing so, we identified some unexpected patterns that suggest important opportunities for TBI research in the future.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6568133PMC

Publication Analysis

Top Keywords

translational bioinformatics
8
decade translational
4
bioinformatics retrospective
4
retrospective analysis
4
analysis "year-in-review"
4
"year-in-review" presentations
4
presentations years
4
years year-in-review
4
yir
4
year-in-review yir
4

Similar Publications

RNA-binding motif protein RBM39 enhances the proliferation of gastric cancer cells by facilitating an oncogenic splicing switch in MRPL33.

Acta Pharmacol Sin

January 2025

Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, The Fourth Affiliated Hospital of Soochow University, Jiangsu Province Engineering Research Center of Precision Diagnostics and Therapeutics Development, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Suzhou Key Laboratory of Drug Research for Prevention and Treatment of Hyperlipidemic Diseases, Soochow University, Suzhou, 215123, China.

Gastric cancer is a malignant gastrointestinal disease characterized by high morbidity and mortality rates worldwide. The occurrence and progression of gastric cancer are influenced by various factors, including the abnormal alternative splicing of key genes. Recently, RBM39 has emerged as a tumor biomarker that regulates alternative splicing in several types of cancer.

View Article and Find Full Text PDF

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Nat Genet

January 2025

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

View Article and Find Full Text PDF

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Am J Hum Genet

December 2024

Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

View Article and Find Full Text PDF

Peptide-based vaccine design against Hendra virus through immunoinformatics approach.

Vet Immunol Immunopathol

December 2024

Department of Biochemistry, Bahauddin Zakariya University, Multan 66000, Pakistan. Electronic address:

The Hendra virus (HeV) has resulted in epidemics of respiratory and neurological illnesses in animals. Humans have contracted diseases with high fatality rates as a result of infected domestic animals, but effective vaccinations and therapies are currently not available against HeV. Herein, we analyzed the proteome of HeV and constructed an effective and innovative multi-epitope vaccine using immunoinformatics techniques.

View Article and Find Full Text PDF

The death and clearance of nurse cells is a consequential milestone in Drosophila melanogaster oogenesis. In preparation for oviposition, the germline-derived nurse cells bequeath to the developing oocyte all their cytoplasmic contents and undergo programmed cell death. The death of the nurse cells is controlled non-autonomously and is precipitated by epithelial follicle cells of somatic origin acquiring a squamous morphology and acidifying the nurse cells externally.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!