OOIR: Observatory of International Research

Papers

(The H4-Index of Genome Medicine is 53. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)

Article	Citations
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores	443
Deep learning in cancer diagnosis, prognosis and treatment selection	404
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs	389
An introduction to spatial transcriptomics for biomedical research	344
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients	203
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome	160
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients	139
Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer	135
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation	132
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response	125
DeepProg: an ensemble of deep-learning and machine-learning models for prognosis prediction using multi-omics data	120
Transcriptome-wide profiles of circular RNA and RNA-binding protein interactions reveal effects on circular RNA biogenesis and cancer pathway expression	120
Clinical trial design in the era of precision medicine	120
The neuroimmune axis of Alzheimer’s disease	118
Recommendations for clinical interpretation of variants found in non-coding regions of the genome	110
Microglial PGC-1α protects against ischemic brain injury by suppressing neuroinflammation	110
Integrated analysis of microbiome and host transcriptome reveals correlations between gut microbiota and clinical outcomes in HBV-related hepatocellular carcinoma	105
A Klebsiella pneumoniae ST307 outbreak clone from Germany demonstrates features of extensive drug resistance, hypermucoviscosity, and enhanced iron acquisition	100
Robust barcoding and identification of Mycobacterium tuberculosis lineages for epidemiological and clinical studies	99
High-grade serous tubo-ovarian cancer refined with single-cell RNA sequencing: specific cell subtypes influence survival and determine molecular subtype classification	99
Clinical implementation of RNA sequencing for Mendelian disease diagnostics	99
Guild-based analysis for understanding gut microbiome in human health and diseases	98
Intra-host variation and evolutionary dynamics of SARS-CoV-2 populations in COVID-19 patients	95
CoronaHiT: high-throughput sequencing of SARS-CoV-2 genomes	93
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues	92

Dietary fiber intake, the gut microbiome, and chronic systemic inflammation in a cohort of adult men	90
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer	90
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19	84
Mobilization of the nonconjugative virulence plasmid from hypervirulent Klebsiella pneumoniae	79
Hepatocellular carcinoma patients with high circulating cytotoxic T cells and intra-tumoral immune signature benefit from pembrolizumab: results from a single-arm phase 2 trial	78
A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch	76
Improved analysis of CRISPR fitness screens and reduced off-target effects with the BAGEL2 gene essentiality classifier	76
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease	75
Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker	72
PRMT1-mediated H4R3me2a recruits SMARCA4 to promote colorectal cancer progression by enhancing EGFR signaling	71
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases	65
5′-tRF-GlyGCC: a tRNA-derived small RNA as a novel biomarker for colorectal cancer diagnosis	65
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes	64
Population genomics and antimicrobial resistance in Corynebacterium diphtheriae	63
The complexities of the diet-microbiome relationship: advances and perspectives	63
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	60
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders	60
Epigenetic signatures in cancer: proper controls, current challenges and the potential for clinical translation	59
Human reference gut microbiome catalog including newly assembled genomes from under-represented Asian metagenomes	59
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	58
Explaining decisions of graph convolutional neural networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer	58
MDR M. tuberculosis outbreak clone in Eswatini missed by Xpert has elevated bedaquiline resistance dated to the pre-treatment era	58
Microbiota restoration reduces antibiotic-resistant bacteria gut colonization in patients with recurrent Clostridioides difficile infection from the open-label PUNCH CD study	58
Pervasive generation of non-canonical subgenomic RNAs by SARS-CoV-2	56
Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study	55
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial	55
Genetic diversity and characteristics of high-level tigecycline resistance Tet(X) in Acinetobacter species	55
MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning	53
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	53
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	53