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CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study
CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study
Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ov...
Causal impact of genetically-determined fish and fish oil intake on epigenetic age acceleration and related serum markers
Causal impact of genetically-determined fish and fish oil intake on epigenetic age acceleration and related serum markers
The interplay between diet and healthspan is a topic of great interest in biomedical research. Toward this end, consumptio...
Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes
Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes
Variations in pharmacogenes that regulate drug absorption, distribution, metabolism, and excretion (ADME) contribute to ap...
Parents’ perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates
Parents’ perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates
Newborn genomic screening offers the potential for early detection and management of genetic disorders. Understanding pare...
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...
FGFR1 variants contributed to families with tooth agenesis
FGFR1 variants contributed to families with tooth agenesis
Tooth agenesis is a common dental anomaly that can substantially affect both the ability to chew and the esthetic appearan...
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of whi...
Decoding cell-type contributions to the cfRNA transcriptomic landscape of liver cancer
Decoding cell-type contributions to the cfRNA transcriptomic landscape of liver cancer
Liquid biopsy, particularly cell-free RNA (cfRNA), has emerged as a promising non-invasive diagnostic tool for various dis...
Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis
Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis
Previous studies have proposed that food intakes are associated with the risk of urolithiasis. Here, we conducted a two-sa...
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