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PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression
PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression
The identification of cancer driver genes from sequencing data has been crucial in deepening our understanding of tumor bi...
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large ...
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study
The Mycobacterium avium complex (MAC) comprises the most frequent non-tuberculous mycobacteria (NTM) in Central Europe and...
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense ...
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection
SARS-CoV-2 remains rapidly evolving, and many biologically important genomic substitutions/indels have characterised novel...
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy
Oesophageal adenocarcinoma (OAC) is a highly heterogeneous cancer with poor survival. Standard curative treatment is chemo...
Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers
Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers
Somatic copy number alterations are a hallmark of cancer that offer unique opportunities for therapeutic exploitation. Her...
CRISPR-Cas9 screens reveal common essential miRNAs in human cancer cell lines
CRISPR-Cas9 screens reveal common essential miRNAs in human cancer cell lines
Genome-wide functional screening using the CRISPR-Cas9 system is a powerful tool to uncover tumor-specific and common gene...
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome
Chronic kidney disease (CKD) is a progressive disease for which there is no effective cure. We aimed to identify potential...
Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies
Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies
Early detection of colorectal neoplasms can reduce the colorectal cancer (CRC) burden by timely intervention for high-risk...
Machine learning integrative approaches to advance computational immunology
Machine learning integrative approaches to advance computational immunology
The study of immunology, traditionally reliant on proteomics to evaluate individual immune cells, has been revolutionized ...
Colorectal cancer microbiome programs DNA methylation of host cells by affecting methyl donor metabolism
Colorectal cancer microbiome programs DNA methylation of host cells by affecting methyl donor metabolism
Colorectal cancer (CRC) arises from complex interactions between host and environment, which include the gut and tissue mi...
Multi-dimensional cell-free DNA-based liquid biopsy for sensitive early detection of gastric cancer
Multi-dimensional cell-free DNA-based liquid biopsy for sensitive early detection of gastric cancer
Gastric cancer is the fifth most common cancer type. Most patients are diagnosed at advanced stages with poor prognosis. A...
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes
Antimicrobial resistance (AMR) is an intensifying threat that requires urgent mitigation to avoid a post-antibiotic era. P...
Optimizing clinico-genomic disease prediction across ancestries: a machine learning strategy with Pareto improvement
Optimizing clinico-genomic disease prediction across ancestries: a machine learning strategy with Pareto improvement
Accurate prediction of an individual’s predisposition to diseases is vital for preventive medicine and early interve...
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are...
Variability of polygenic prediction for body mass index in Africa
Variability of polygenic prediction for body mass index in Africa
Polygenic prediction studies in continental Africans are scarce. Africa’s genetic and environmental diversity pose a...
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
KCNE1 encodes a 129-residue cardiac potassium channel (IKs) subunit. KCNE1 variants are associated with long QT syndrome a...
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause
The role of metabolism in the variation of age at menarche (AAM) and age at natural menopause (ANM) in the female populati...
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans
Disease prevalence and mean phenotype values differ between many populations, including Inuit and Europeans. Whether these...
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes
Rare oncogenic driver events, particularly affecting the expression or splicing of driver genes, are suspected to substant...
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
Inflammatory bowel disease (IBD) and Parkinson’s disease (PD) are chronic disorders that have been suggested to shar...
imply: improving cell-type deconvolution accuracy using personalized reference profiles
imply: improving cell-type deconvolution accuracy using personalized reference profiles
Using computational tools, bulk transcriptomics can be deconvoluted to estimate the abundance of constituent cell types. H...
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack ...
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
The clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrall...
Single-cell transcriptomics reveal distinct immune-infiltrating phenotypes and macrophage–tumor interaction axes among different lineages of pituitary neuroendocrine tumors
Single-cell transcriptomics reveal distinct immune-infiltrating phenotypes and macrophage–tumor interaction axes among different lineages of pituitary neuroendocrine tumors
Pituitary neuroendocrine tumors (PitNETs) are common gland neoplasms demonstrating distinctive transcription factors. Alth...
Identifying latent genetic interactions in genome-wide association studies using multiple traits
Identifying latent genetic interactions in genome-wide association studies using multiple traits
The "missing" heritability of complex traits may be partly explained by genetic variants interacting with other ...
Metabolic and inflammatory perturbation of diabetes associated gut dysbiosis in people living with and without HIV infection
Metabolic and inflammatory perturbation of diabetes associated gut dysbiosis in people living with and without HIV infection
Gut dysbiosis has been linked with both HIV infection and diabetes, but its interplay with metabolic and inflammatory resp...
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years
Klebsiella pneumoniae is a major bacterial and opportunistic human pathogen, increasingly recognized as a healthcare burde...
National genomic epidemiology investigation revealed the spread of carbapenem-resistant Escherichia coli in healthy populations and the impact on public health
National genomic epidemiology investigation revealed the spread of carbapenem-resistant Escherichia coli in healthy populations and the impact on public health
Carbapenem-resistant Escherichia coli (CREC) has been considered as WHO priority pathogens, causing a great public health ...
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