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A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Over 200 pathogenic variants in the OTOF gene encoding otoferlin are associated with sensorineural hearing loss (SNHL) and...
Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes
Identification of genetically-supported new drug targets for osteomyelitis based on druggable genomes
Limited drug treatment data are available for osteomyelitis (OM), an inflammatory bone condition secondary to infection. G...
Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians
Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians
Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, an...
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings
Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings
Recurrent acute liver failure (RALF) is a rare and life-threatening disorder often triggered by infections or febrile epis...
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients
Gitelman syndrome (GS) is a rare tubulopathy with clinical and genetic heterogeneity. This study aimed to investigate the ...
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
Pharmacogenomics (PGx) aims to delineate a patient’s genetic profile with differences in drug efficacy and/or toxici...
Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers
Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers
Sideroflexin (SFXN) family genes encode for a group of mitochondrial proteins involved in cellular processes such as iron ...
Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients
Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients
Next-generation sequencing (NGS)-based testing is a cost-effective method for identifying pathogenic germline genetic vari...
A pan-cancer analysis of the oncogenic and immunological roles of RGS5 in clear cell renal cell carcinomas based on in vitro experiment validation
A pan-cancer analysis of the oncogenic and immunological roles of RGS5 in clear cell renal cell carcinomas based on in vitro experiment validation
RGS5, the first gene identified in tumor-resident pericytes, plays a crucial role in angiogenesis. However, its effects on...
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China
Thalassemia is among the most common inherited diseases worldwide. We aimed to analyze the genotype and frequency distribu...
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...
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