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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 ...
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...
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 ...
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...
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk
Lung cancer is the leading cause of cancer-related death in the world. In contrast to many other cancers, a direct connect...
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...
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resul...
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer
Prostate cancer is a significant health concern, particularly among African American (AA) men who exhibit higher incidence...
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma
Mitochondria play essential roles in tumorigenesis; however, little is known about the contribution of mitochondrial DNA (...
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression
Natural killer/T cell lymphoma (NKTCL) is a clinically and genetically heterogeneous disease with poor prognosis. Genome s...
Conserved methylation signatures associate with the tumor immune microenvironment and immunotherapy response
Conserved methylation signatures associate with the tumor immune microenvironment and immunotherapy response
Aberrant DNA methylation is a major characteristic of cancer genomes. It remains unclear which biological processes determ...
Systematic immune cell dysregulation and molecular subtypes revealed by single-cell RNA-seq of subjects with type 1 diabetes
Systematic immune cell dysregulation and molecular subtypes revealed by single-cell RNA-seq of subjects with type 1 diabetes
Type 1 diabetes mellitus (T1DM) is a prototypic endocrine autoimmune disease resulting from an immune-mediated destruction...
Deep learning in cancer genomics and histopathology
Deep learning in cancer genomics and histopathology
Histopathology and genomic profiling are cornerstones of precision oncology and are routinely obtained for patients with c...
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study
The occurrence of metabolic syndrome (MetS) and the gut microbiota composition are known to differ across ethnicities yet ...
Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians
Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians
Type 2 diabetes (T2D) has reached epidemic proportions globally, including in Africa. However, molecular studies to unders...
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to dis...