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Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology
Blood cultures are essential for diagnosing bloodstream infections, but current phenotypic tests for antimicrobial resista...
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting s...
SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer
SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer
Clear cell renal cell carcinoma (ccRCC) tumours develop and progress via complex remodelling of the kidney epigenome, tran...
Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae
Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae
Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract and invasive infecti...
The genetics and epidemiology of N- and O-immunoglobulin A glycomics
The genetics and epidemiology of N- and O-immunoglobulin A glycomics
Immunoglobulin (Ig) glycosylation modulates the immune response and plays a critical role in ageing and diseases. Studies ...
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease
Congenital heart disease (CHD) is the most prevalent congenital anomaly, but its underlying causes are still not fully und...
Spatial multiomics reveals a subpopulation of fibroblasts associated with cancer stemness in human hepatocellular carcinoma
Spatial multiomics reveals a subpopulation of fibroblasts associated with cancer stemness in human hepatocellular carcinoma
Cancer-associated fibroblasts (CAFs) are the prominent cell type in the tumor microenvironment (TME), and CAF subsets have...
Burden of Mendelian disorders in a large Middle Eastern biobank
Burden of Mendelian disorders in a large Middle Eastern biobank
Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation o...
Single cell lineage tracing reveals clonal dynamics of anti-EGFR therapy resistance in triple negative breast cancer
Single cell lineage tracing reveals clonal dynamics of anti-EGFR therapy resistance in triple negative breast cancer
Most primary Triple Negative Breast Cancers (TNBCs) show amplification of the Epidermal Growth Factor Receptor (EGFR) gene...
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 ...
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies
Despite the abundance of genotype-phenotype association studies, the resulting association outcomes often lack robustness ...
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...
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes
In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progres...
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with hi...
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lea...
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae
Klebsiella pneumoniae is a notorious clinical pathogen and frequently carries various plasmids, which are the main carrier...
Personalized tumor combination therapy optimization using the single-cell transcriptome
Personalized tumor combination therapy optimization using the single-cell transcriptome
The precise characterization of individual tumors and immune microenvironments using transcriptome sequencing has provided...
A phenome-wide scan reveals convergence of common and rare variant associations
A phenome-wide scan reveals convergence of common and rare variant associations
Common and rare variants contribute to the etiology of complex traits. However, the extent to which the phenotypic effects...
GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers
GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers
Understanding the mechanistic effects of novel immunotherapy agents is critical to improving their successful clinical tra...
Massive underrepresentation of Arabs in genomic studies of common disease
Massive underrepresentation of Arabs in genomic studies of common disease
Arabs represent 5% of the world population and have a high prevalence of common disease, yet remain greatly underrepresent...
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer
The prognosis for patients with head and neck cancer (HNC) is poor and has improved little in recent decades, partially du...
The role of admixture in the rare variant contribution to inflammatory bowel disease
The role of admixture in the rare variant contribution to inflammatory bowel disease
Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated wi...
Building blocks for better biorepositories in Africa
Building blocks for better biorepositories in Africa
Biorepositories archive and distribute well-characterized biospecimens for research to support the development of medical ...
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network
Early detection of hepatocellular carcinoma (HCC) is important in order to improve patient prognosis and survival rate. Me...
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnost...
Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control
Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control
Malaria continues to be a major threat to global public health. Whole genome sequencing (WGS) of the underlying Plasmodium...
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells
Chronic limb-threatening ischemia (CLTI), a severe manifestation of peripheral arterial disease (PAD), is associated with ...
Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications
Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications
Systemic lupus erythematosus (SLE) is known to be clinically heterogeneous. Previous efforts to characterize subsets of SL...
Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia
Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia
Mixed phenotype acute leukemia (MPAL), a rare subgroup of leukemia characterized by blast cells with myeloid and lymphoid ...
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adeno...
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