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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family...
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A Matrix Factorization-Based Drug-Virus Link Prediction Method for SARS-CoV-2 Drug Prioritization
Matrix factorization (MF) has been widely used in drug discovery for link prediction, which aims to reveal new drug-target links by integrating...
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Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in...
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Effects of task prioritization on a postural-motor task in early-stage Parkinson’s disease: EEG connectivity and clinical implication
Appropriate attentional resource allocation could minimize exaggerated dual-task interference due to basal ganglia dysfunction in Parkinson’s disease...
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A novel NONO variant that causes developmental delay and cardiac phenotypes
The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three...
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Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms
Genetic predisposition (familial risk) in the myeloproliferative neoplasms (MPNs) is more common than the risk observed in most other cancers,...
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The Self-Prioritization Effect: Self-referential processing in movement highlights modulation at multiple stages
A wealth of recent research supports the validity of the Self-Prioritization Effect (SPE)—the performance advantage for responses to self-associated...
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Contextualizing genetic risk score for disease screening and rare variant discovery
Studies of the genetic basis of complex traits have demonstrated a substantial role for common, small-effect variant polygenic burden (PB) as well as...
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A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1,...
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A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia
Cerebellar ataxias (CAs) comprise a rare group of neurological disorders characterized by extensive phenotypic and genetic heterogeneity. In the last...
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Genomic Variant Annotation: A Comprehensive Review of Tools and Techniques
Variant annotation is the process by which variants and mutations in the DNA are assigned functional information and is a crucial process in genomic...
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Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland
Predisposing factors underlying familial aggregation of non-syndromic gliomas are still to be uncovered. Whole-exome sequencing was performed in four...
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Functional testing for variant prioritization in a family with long QT syndrome
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable...
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Resources Optimization and Value-Based Prioritization for at Risk Cultural Heritage Assets Management
The paper examines efficient post-disaster management of cultural artifacts, emphasizing the need to prioritize object treatment for resource...
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Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India
Neurofibromatosis type 1 (NF1) is a multisystemic hereditary disorder associated with an increased risk of benign and malignant tumor formation...
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Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenoty** after identification of gain-of-function variant in ABCC9
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. CS is caused by gain-of-function...
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Effective variant filtering and expected candidate variant yield in studies of rare human disease
In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the...
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Risk of SARS-CoV-2 reinfection during multiple Omicron variant waves in the UK general population
SARS-CoV-2 reinfections increased substantially after Omicron variants emerged. Large-scale community-based comparisons across multiple Omicron waves...
