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Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfu...
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer
Alternative splicing complexity plays a vital role in carcinogenesis and cancer progression. Improved understanding of nov...
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence
Novel immunotherapy combination therapies have improved outcomes for patients with hepatocellular carcinoma (HCC), but res...
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome
The proteome is a major source of therapeutic targets. We conducted a proteome-wide Mendelian randomization (MR) study to ...
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of ...
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile
The immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in COVID-19 patients has bee...
A robust deep learning workflow to predict CD8 + T-cell epitopes
A robust deep learning workflow to predict CD8 + T-cell epitopes
T-cells play a crucial role in the adaptive immune system by triggering responses against cancer cells and pathogens, whil...
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours
Cancer immunotherapies including immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR) T-cell therapy have show...
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian gen...
Revealing the developmental origin and lineage predilection of neural progenitors within human bone marrow via single-cell analysis: implications for regenerative medicine
Revealing the developmental origin and lineage predilection of neural progenitors within human bone marrow via single-cell analysis: implications for regenerative medicine
Human bone marrow stromal cells (BMSCs) are an easily accessible and expandable progenitor population with the capacity to...
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients
Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and h...
A machine learning classifier using 33 host immune response mRNAs accurately distinguishes viral and non-viral acute respiratory illnesses in nasal swab samples
A machine learning classifier using 33 host immune response mRNAs accurately distinguishes viral and non-viral acute respiratory illnesses in nasal swab samples
Viral acute respiratory illnesses (viral ARIs) contribute significantly to human morbidity and mortality worldwide, but th...
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral an...
Sequence dependencies and mutation rates of localized mutational processes in cancer
Sequence dependencies and mutation rates of localized mutational processes in cancer
Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutationa...
CCR2 macrophage response determines the functional outcome following cardiomyocyte transplantation
CCR2 macrophage response determines the functional outcome following cardiomyocyte transplantation
The immune response is a crucial factor for mediating the benefit of cardiac cell therapies. Our previous research showed ...
A meta-analysis of immune-cell fractions at high resolution reveals novel associations with common phenotypes and health outcomes
A meta-analysis of immune-cell fractions at high resolution reveals novel associations with common phenotypes and health outcomes
Changes in cell-type composition of tissues are associated with a wide range of diseases and environmental risk factors an...
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis
Irritable bowel syndrome (IBS) often co-occurs with psychiatric and gastrointestinal disorders. A recent genome-wide assoc...
Morphological and transcriptomic analyses of stem cell-derived cortical neurons reveal mechanisms underlying synaptic dysfunction in schizophrenia
Morphological and transcriptomic analyses of stem cell-derived cortical neurons reveal mechanisms underlying synaptic dysfunction in schizophrenia
Postmortem studies in schizophrenia consistently show reduced dendritic spines in the cerebral cortex but the mechanistic ...
Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved
Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved
SARS-CoV-2 recombinants involving the divergent Delta and Omicron lineages have been described, and one of them, “Kr...
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues
Prioritizing genes that underlie complex brain disorders poses a considerable challenge. Despite previous studies have fou...
Longitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer
Longitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer
Cyclin-dependent kinase 4/6 inhibitor (CDK4/6) therapy plus endocrine therapy (ET) is an effective treatment for patients ...
Impact of the SARS-CoV-2 nucleocapsid 203K/204R mutations on the inflammatory immune response in COVID-19 severity
Impact of the SARS-CoV-2 nucleocapsid 203K/204R mutations on the inflammatory immune response in COVID-19 severity
The excessive inflammatory responses provoked by SARS-CoV-2 infection are critical factors affecting the severity and mort...
Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy
Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy
Emerging evidence from mouse models is beginning to elucidate the brain’s immune response to tau pathology, but litt...
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease
Alzheimer’s disease (AD) is characterized by the intra- and extracellular accumulation of amyloid-β (Aβ) p...
Ancestry-driven metabolite variation provides insights into disease states in admixed populations
Ancestry-driven metabolite variation provides insights into disease states in admixed populations
Metabolic pathways are related to physiological functions and disease states and are influenced by genetic variation and e...
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence
Spatiotemporal heterogeneity originating from genomic and transcriptional variation was found to contribute to subtype swi...
Metagenomic assessment of gut microbial communities and risk of severe COVID-19
Metagenomic assessment of gut microbial communities and risk of severe COVID-19
The gut microbiome is a critical modulator of host immunity and is linked to the immune response to respiratory viral infe...
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance i...
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China
Streptococcus pneumoniae is a gram-positive opportunistic pathogen, and infection risks of S. pneumoniae can be profoundly...
Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy
Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy
Dose-limiting toxicities significantly impact the benefit/risk profile of many drugs. Whole genome sequencing (WGS) in pat...
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