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A latent outcome variable approach for Mendelian randomization using the stochastic expectation maximization algorithm
A latent outcome variable approach for Mendelian randomization using the stochastic expectation maximization algorithm
Mendelian randomization (MR) is a widely used tool to uncover causal relationships between exposures and outcomes. However...
Comprehensive profiling of tsRNAs in acute coronary syndrome: expression patterns, clinical correlations, and functional insights
Comprehensive profiling of tsRNAs in acute coronary syndrome: expression patterns, clinical correlations, and functional insights
Transfer RNA-derived small RNAs (tsRNAs) have emerged as potential biomarkers of various human diseases. However, the clin...
Advancing chronic myeloid leukemia research with next-generation sequencing: potential benefits, limitations, and future clinical integration
Advancing chronic myeloid leukemia research with next-generation sequencing: potential benefits, limitations, and future clinical integration
Next-generation sequencing (NGS) has emerged as a powerful tool for advancing research in chronic myeloid leukemia (CML) b...
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet cl...
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature
In the last decade the increasing use of germline genetic testing has led to frequent discoveries of secondary findings (S...
Understanding the genetic architecture and phenotypic landscape of gene variants causing hereditary spherocytosis in an Indian cohort
Understanding the genetic architecture and phenotypic landscape of gene variants causing hereditary spherocytosis in an Indian cohort
Hereditary spherocytosis (HS) is a common form of haemolytic anaemia caused by defects or deficiencies in genes encoding e...
A genomic tale of inbreeding in western Mediterranean human populations
A genomic tale of inbreeding in western Mediterranean human populations
Consanguineous marriages are common in many worldwide human populations, and the biological consequences for offspring can...
Genome-wide association study of Fuchs’ endothelial corneal dystrophy in the German population
Genome-wide association study of Fuchs’ endothelial corneal dystrophy in the German population
The genetic etiology of Fuchs Endothelial Corneal Dystrophy (FECD) is not yet fully elucidated. While the disease is wides...
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome
Genetic causes of steroid-resistant-nephrotic-syndrome (SRNS) represent a rapidly growing number of monogenic diseases. Th...
Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study
Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study
Currently, new research projects aim to develop prognostic models that more accurately predict the age of onset and progre...
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is a primary liver malignancy with a dismal prognosis. This study established and validated...
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants
Reliable prediction of pathogenic variants plays a crucial role in personalized medicine, which aims to provide accurate d...
Expanding the phenotypic spectrum of : a recall-by-genotype study
Expanding the phenotypic spectrum of : a recall-by-genotype study
Rare variants in prokineticin 2 pathway genes (PROK2; PROKR2), cause isolated hypogonadotropic hypogonadism (IHH) in human...
Current perspectives on gene therapy and its involvement in curing genetic disorders
Current perspectives on gene therapy and its involvement in curing genetic disorders
Genomics is revolutionizing medical science, offering transformative potential for the future of medicine. Advances in who...
Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis
Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis
Delandistrogene moxeparvovec was recently approved for Duchenne Muscular Dystrophy (DMD), using an adeno-associated virus ...
FBRSL1 regulates the expression of chromatin regulators and
FBRSL1 regulates the expression of chromatin regulators and
FBRSL1-associated syndrome is a rare congenital malformation and intellectual disability syndrome caused by heterozygous t...
Characterizing the HLA region’s genetic architecture through local heritability and correlation analyses across complex traits in diverse ancestries
Characterizing the HLA region’s genetic architecture through local heritability and correlation analyses across complex traits in diverse ancestries
The human leukocyte antigen (HLA) region is a critical genetic locus associated with diverse complex traits, yet its intri...
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Structural birth defects affect 3–4% of all live births and, depending on the type, tend to manifest in a sex-biased...
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62...
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is caused by the expansion of a genetically unstable polyg...
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview
Polygenic risk scores (PRS) have emerged as a promising tool for predicting disease risk and treatment outcomes using geno...
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms
Tooth agenesis (TA) occurs when tooth development is disrupted at the initiation stage. It can be classified into non-synd...
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity
Genome-wide association studies have identified dozens of genomic loci for obesity. However, functional genes and their de...
Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes
Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes
Ischemic stroke (IS), characterized by complex etiological diversity, is a significant global health challenge. Recent adv...
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases
Preaxial polydactyly (PPD) is a congenital limb malformation, previously reported to be caused primarily by variants in th...
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
Purpose: With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of g...
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review
This scoping review aims to identify and evaluate the landscape of Polygenic Risk Score (PRS)-based methods for genomic pr...
Germline copy number variants and endometrial cancer risk
Germline copy number variants and endometrial cancer risk
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the associ...
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a ...
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can pre...
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