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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for ...
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic vari...
Human organoids for rapid validation of gene variants linked to cochlear malformations
Human organoids for rapid validation of gene variants linked to cochlear malformations
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with c...
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic ...
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calm...
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migra...
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...
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...
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...
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...
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...
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 ...
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...
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...
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases
Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the ca...
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...
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...
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...
A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study
A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study
The Long Life Family Study (LLFS) enrolled 4953 participants in 539 pedigrees displaying exceptional longevity. To identif...
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)....
VCAT: an integrated variant function annotation tools
VCAT: an integrated variant function annotation tools
The development of sequencing technology has promoted discovery of variants in the human genome. Identifying functions of ...
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...
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...
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
As the adoption and scope of genetic testing continue to expand, interpreting the clinical significance of DNA sequence va...
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...
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