Genome Medicine

Papers
(The H4-Index of Genome Medicine is 54. 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 2020-10-01 to 2024-10-01.)
ArticleCitations
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores428
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs366
Deep learning in cancer diagnosis, prognosis and treatment selection362
An introduction to spatial transcriptomics for biomedical research317
Best practices for variant calling in clinical sequencing209
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients198
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome146
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients139
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation132
Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer126
DeepProg: an ensemble of deep-learning and machine-learning models for prognosis prediction using multi-omics data120
Transcriptome-wide profiles of circular RNA and RNA-binding protein interactions reveal effects on circular RNA biogenesis and cancer pathway expression120
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response113
Microglial PGC-1α protects against ischemic brain injury by suppressing neuroinflammation110
Clinical trial design in the era of precision medicine106
Integrated analysis of microbiome and host transcriptome reveals correlations between gut microbiota and clinical outcomes in HBV-related hepatocellular carcinoma105
A Klebsiella pneumoniae ST307 outbreak clone from Germany demonstrates features of extensive drug resistance, hypermucoviscosity, and enhanced iron acquisition100
The neuroimmune axis of Alzheimer’s disease99
Clinical implementation of RNA sequencing for Mendelian disease diagnostics99
Robust barcoding and identification of Mycobacterium tuberculosis lineages for epidemiological and clinical studies99
Guild-based analysis for understanding gut microbiome in human health and diseases98
Intra-host variation and evolutionary dynamics of SARS-CoV-2 populations in COVID-19 patients95
Recommendations for clinical interpretation of variants found in non-coding regions of the genome95
CoronaHiT: high-throughput sequencing of SARS-CoV-2 genomes93
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues92
High-grade serous tubo-ovarian cancer refined with single-cell RNA sequencing: specific cell subtypes influence survival and determine molecular subtype classification92
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer90
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-1984
Dietary fiber intake, the gut microbiome, and chronic systemic inflammation in a cohort of adult men82
A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch76
Microbial signature in IgE-mediated food allergies76
The murine Microenvironment Cell Population counter method to estimate abundance of tissue-infiltrating immune and stromal cell populations in murine samples using gene expression75
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease75
Mobilization of the nonconjugative virulence plasmid from hypervirulent Klebsiella pneumoniae75
Hepatocellular carcinoma patients with high circulating cytotoxic T cells and intra-tumoral immune signature benefit from pembrolizumab: results from a single-arm phase 2 trial73
Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker72
Improved analysis of CRISPR fitness screens and reduced off-target effects with the BAGEL2 gene essentiality classifier72
PRMT1-mediated H4R3me2a recruits SMARCA4 to promote colorectal cancer progression by enhancing EGFR signaling71
5′-tRF-GlyGCC: a tRNA-derived small RNA as a novel biomarker for colorectal cancer diagnosis65
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases65
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes64
Population genomics and antimicrobial resistance in Corynebacterium diphtheriae63
The complexities of the diet-microbiome relationship: advances and perspectives63
The landscape of host genetic factors involved in immune response to common viral infections62
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations60
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders60
Human reference gut microbiome catalog including newly assembled genomes from under-represented Asian metagenomes59
Epigenetic signatures in cancer: proper controls, current challenges and the potential for clinical translation59
MDR M. tuberculosis outbreak clone in Eswatini missed by Xpert has elevated bedaquiline resistance dated to the pre-treatment era58
Explaining decisions of graph convolutional neural networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer57
Microbiota restoration reduces antibiotic-resistant bacteria gut colonization in patients with recurrent Clostridioides difficile infection from the open-label PUNCH CD study57
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial55
Pervasive generation of non-canonical subgenomic RNAs by SARS-CoV-255
Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study55
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