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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01358-9
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- Article
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0
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- Article
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01359-8
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- Article
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01349-w
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- Article
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01356-x
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- Publication type:
- Article
Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01357-w
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- Publication type:
- Article
CRISPR-Cas9 screens reveal common essential miRNAs in human cancer cell lines.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01341-4
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- Publication type:
- Article
Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01355-y
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- Article
Machine learning integrative approaches to advance computational immunology.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01350-3
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- Article
Multi-dimensional cell-free DNA-based liquid biopsy for sensitive early detection of gastric cancer.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01352-1
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- Article
Colorectal cancer microbiome programs DNA methylation of host cells by affecting methyl donor metabolism.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01344-1
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- Article
Optimizing clinico-genomic disease prediction across ancestries: a machine learning strategy with Pareto improvement.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01345-0
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- Publication type:
- Article
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01347-y
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- Article
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
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- Article
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01322-7
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- Article
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01326-3
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- Article
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01331-6
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- Article
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01335-2
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- Article
Correction: Genome Med 15, 115 & Genome Med 16, 3.
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- 2024
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- Publication type:
- Correction Notice
Longitudinal analysis within one hospital in sub-Saharan Africa over 20 years reveals repeated replacements of dominant clones of Klebsiella pneumoniae and stresses the importance to include temporal patterns for vaccine design considerations.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01342-3
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- Article
imply: improving cell-type deconvolution accuracy using personalized reference profiles.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01338-z
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- Publication type:
- Article
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01333-4
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- Article
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01337-0
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- Publication type:
- Article
Identifying latent genetic interactions in genome-wide association studies using multiple traits.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01329-0
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- Publication type:
- Article
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01334-3
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- Publication type:
- Article
Single-cell transcriptomics reveal distinct immune-infiltrating phenotypes and macrophage–tumor interaction axes among different lineages of pituitary neuroendocrine tumors.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01325-4
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- Article
Metabolic and inflammatory perturbation of diabetes associated gut dysbiosis in people living with and without HIV infection.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01336-1
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- Article
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01332-5
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- Publication type:
- Article
National genomic epidemiology investigation revealed the spread of carbapenem-resistant Escherichia coli in healthy populations and the impact on public health.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01310-x
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- Article
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01330-7
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- Publication type:
- Article
Single cell lineage tracing reveals clonal dynamics of anti-EGFR therapy resistance in triple negative breast cancer.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01327-2
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- Article
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01317-4
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01324-5
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- Publication type:
- Article
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01320-9
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- Publication type:
- Article
Conserved methylation signatures associate with the tumor immune microenvironment and immunotherapy response.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01318-3
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- Publication type:
- Article
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01323-6
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- Publication type:
- Article
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01321-8
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- Publication type:
- Article
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01319-2
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- Publication type:
- Article
Systematic immune cell dysregulation and molecular subtypes revealed by single-cell RNA-seq of subjects with type 1 diabetes.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01300-z
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- Publication type:
- Article
Deep learning in cancer genomics and histopathology.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01315-6
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- Publication type:
- Article
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01316-5
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- Publication type:
- Article
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01295-7
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- Publication type:
- Article
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01313-8
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- Publication type:
- Article
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01314-7
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- Publication type:
- Article
The exceptions that prove the rule—a historical view of bedaquiline susceptibility.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01311-w
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- Publication type:
- Article
Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01308-5
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- Publication type:
- Article
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01278-0
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- Publication type:
- Article
Long-term beneficial effect of faecal microbiota transplantation on colonisation of multidrug-resistant bacteria and resistome abundance in patients with recurrent Clostridioides difficile infection.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01306-7
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- Publication type:
- Article
Deciphering cancer cell state plasticity with single-cell genomics and artificial intelligence.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01309-4
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- Publication type:
- Article