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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...
Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Genetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized b...
Polymorphic pseudogenes in the human genome - a comprehensive assessment
Polymorphic pseudogenes in the human genome - a comprehensive assessment
Background: Over the past decade, variations of the coding portion of the human genome have become increasingly evident. I...
Regulation potential of transcribed simple repeated sequences in developing neurons
Regulation potential of transcribed simple repeated sequences in developing neurons
Simple repeated sequences (SRSs), defined as tandem iterations of microsatellite- to satellite-sized DNA units, occupy a s...
lncRNA CDKN2B-AS1 regulates collagen expression
lncRNA CDKN2B-AS1 regulates collagen expression
The long noncoding RNA CDKN2B-AS1 harbors a major coronary artery disease risk haplotype, which is also associated with pr...
Fine mapping of candidate effector genes for heart rate
Fine mapping of candidate effector genes for heart rate
An elevated resting heart rate (RHR) is associated with increased cardiovascular mortality. Genome-wide association studie...
The obesity-related mutation gene on nonalcoholic fatty liver disease
The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) charac...
QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning
QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning
Next-generation sequencing (NGS) has revolutionized genetic diagnostics, yet its application in precision medicine remains...
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
Unilateral moyamoya disease (MMD) represents a distinct subtype characterised by occlusive changes in the circle of Willis...
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
ARID1B is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the vast majority of causative variant...
Automatized detection of uniparental disomies in a large cohort
Automatized detection of uniparental disomies in a large cohort
Uniparental disomy (UPD) is the inheritance of both homologues of a chromosome from only one parent. The detection of UPDs...
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss
Gasdermin E (GSDME), a member of the gasdermin protein family, is associated with post-lingual hearing loss. All GSDME pat...
T1R2/T1R3 polymorphism affects sweet and fat perception: Correlation between SNP and BMI in the context of obesity development
T1R2/T1R3 polymorphism affects sweet and fat perception: Correlation between SNP and BMI in the context of obesity development
Genetic variations in taste receptors are associated with gustatory perception and obesity, which in turn affects...
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease accompanied by both local and systemic como...
GBF1 deficiency causes cataracts in human and mouse
GBF1 deficiency causes cataracts in human and mouse
Any opacification of the lens can be defined as cataracts, and lens epithelium cells play a crucial role in guaranteeing l...
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
This paper presents an evaluation of predictions submitted for the "HMBS" challenge, a component of the sixth ro...
Structure-informed protein language models are robust predictors for variant effects
Structure-informed protein language models are robust predictors for variant effects
Emerging variant effect predictors, protein language models (pLMs) learn evolutionary distribution of functional sequences...
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
Genome-Wide Association Studies (GWAS) have been decisive in elucidating the genetic predisposition of neuroblastoma (NB)....
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