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Integrated multiomics revealed adenosine signaling predict immunotherapy response and regulate tumor ecosystem of melanoma
Integrated multiomics revealed adenosine signaling predict immunotherapy response and regulate tumor ecosystem of melanoma
Extracellular adenosine is extensively involved in regulating the tumor microenvironment. Given the disappointing results ...
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BM...
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional ...
Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles
Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles
High-quality genomic datasets from under-representative populations are essential for population genetic analysis and medi...
Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay
Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay
After the occurrence of the COVID-19 pandemic, detection of other disseminated respiratory viruses using highly sensitive ...
A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals
A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals
This study aimed to identify candidate loci and genes related to sleep disturbances in depressed individuals and clarify t...
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian p...
Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Given the high prevalence of BPH among elderly men, pinpointing those at elevated risk can aid in early intervention and e...
The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project
The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project
The following outlines ethical reasons for widening the Human Genome Organisation’s (HUGO) mandate to include ecolog...
What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bacterial antibiotic resistance genes of interest?
What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bacterial antibiotic resistance genes of interest?
Despite a clear appreciation of the impact of human pathogens on community health, efforts to understand pathogen dynamics...
SPP1 is associated with adverse prognosis and predicts immunotherapy efficacy in penile cancer
SPP1 is associated with adverse prognosis and predicts immunotherapy efficacy in penile cancer
The effect of SPP1 in squamous cell carcinoma of the penis (PSCC) remained unknown. We attempted to clarify the function o...
The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population
The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population
Clopidogrel is a widely prescribed prodrug that requires activation via specific pharmacogenes to exert its anti-platelet ...
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of se...
Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living
Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living
The unique physiological and genetic characteristics of individuals influence their reactions to different dietary constit...
Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity
Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity
In recent years, the mitochondria/immune system interaction has been proposed, so that variants of mitochondrial genome an...
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation ...
Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
In this study, we present a NGS-based panel designed for sequencing 1993 SNP loci for forensic DNA investigation....
Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling
Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling
Koromina M, Pandi MT, van der Spek PJ, Patrinos GP, Lauschke VM. The ethnogeographic variability of genetic factors underl...
Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
Genetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. How...
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing...
A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics
A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics
Past studies suggest that there are changes in peripheral blood cell gene expression in response to ischaemic stroke; howe...
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast a...
Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases
Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases
Comorbidities of coronavirus disease 2019 (COVID-19)/coronary heart disease (CHD) pose great threats to disease outcomes, ...
Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids
Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids
Fragmentomics, the investigation of fragmentation patterns of cell-free DNA (cfDNA), has emerged as a promising strategy f...
Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer
Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer
Alternative splicing (AS) plays a crucial role in transcriptomic diversity and is a hallmark of cancer that profoundly inf...
The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study
The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study
Genome sequencing has utility, however, it may reveal secondary findings. While Western bioethicists have been occupied wi...
The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity
The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity
Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (...
Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome
Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome
Accumulating observational studies have identified associations between type 1 diabetes (T1D) and polycystic ovary syndrom...
The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants
The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants
Mitogen-activated protein kinases 1 and 3 (MAPK1 and MAPK3), also called extracellular regulated kinases (ERK2 and ERK1), ...
Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
With the first complete draft of a human genome, the Telomere-to-Telomere Consortium unlocked previously concealed genomic...
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