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Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden
Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and...
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression
Atherosclerosis (AS) is a major cause of cardiovascular diseases and neutrophil extracellular traps (NETs) may be actively...
Integrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma
Integrating single-cell RNA-seq and bulk RNA-seq to construct a neutrophil prognostic model for predicting prognosis and immune response in oral squamous cell carcinoma
Oral squamous cell carcinoma (OSCC) is an aggressive malignancy with poor prognosis. Neutrophil infiltration has been asso...
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and ...
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, ...
The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer
The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer
Biological systems encompass intricate networks governed by RNA-protein interactions that play pivotal roles in cellular f...
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Treatment resistant schizophrenia (TRS) is broadly defined as inadequate response to adequate treatment and is associated ...
Forward–reverse mutation cycles in cancer cell lines under chemical treatments
Forward–reverse mutation cycles in cancer cell lines under chemical treatments
Spontaneous forward–reverse mutations were reported by us earlier in clinical samples from various types of cancers ...
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intr...
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Desp...
Development of novel lysosome-related signatures and their potential target drugs based on bulk RNA-seq and scRNA-seq for diabetic foot ulcers
Development of novel lysosome-related signatures and their potential target drugs based on bulk RNA-seq and scRNA-seq for diabetic foot ulcers
Diabetic foot ulcers (DFU) is the most serious complication of diabetes mellitus, which has become a global health problem...
Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations
Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations
Trace Amine Associated Receptor 1 (TAAR1) is a novel pharmaceutical target under investigation for the treatment of severa...
Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis
Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis
Epidemiological studies have revealed a significant association between impaired kidney function and certain mental disord...
Systematic analysis of IGF2BP family members in non-small-cell lung cancer
Systematic analysis of IGF2BP family members in non-small-cell lung cancer
The insulin-like growth factor-2 mRNA-binding proteins 1, 2, and 3 (IGF2BP1, IGF2BP2, and IGF2BP3) are known to be involve...
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...
Celebrating 20 years of human genomics: a journey of discovery
Celebrating 20 years of human genomics: a journey of discovery
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
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, ...
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