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Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults
While numerous genomic loci have been identified for neuropsychiatric conditions, the contribution of protein-coding variants has yet to be...
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Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications
Telomere length is a putative biomarker of aging and is associated with multiple age-related diseases. There are limited data on the landscape of...
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Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients
BackgroundMyotonia Congenita (MC) is a rare disease classified into two major forms; Thomsen and Becker disease caused by mutations in the CLCN1 ...
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Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential...
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Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing
BackgroundHearing loss (HL) is a common sensory impairment worldwide, with genetic and environmental factors contributing to its occurrence. Next...
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Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
ObjectivesInborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many...
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The Genetic Diversity and Structure of an Isolated Population from Northern European Russia Based on Whole-Exome Sequencing Data
AbstractThis study reports the results of the analysis of exome variations in an isolated rural population from northern European Russia. Initially a...
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Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data
BackgroundHigh-throughput sequencing (HTS) offers unprecedented opportunities for the discovery of causative gene variants in multiple human...
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Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer’s disease
BackgroundAlzheimer’s disease (AD) is an incurable and debilitating neurodegenerative disease that results in the progressive degeneration and death...
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Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples
Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective...
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Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing
Both Warrensburg (WS) and Marfan syndrome (MFS) can impair the vision. Here, we recruited a Chinese family consisting of two WS affected individuals...
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Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing
Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1–2% of children worldwide,...
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Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China
ObjectivesTo explore the causes of sudden unexpected death (SUD) and to search for high-risk people, whole exome sequencing (WES) was performed in...
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Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran
Genetic ocular diseases are heterogeneous disorders. Recent advances have led to a paradigm shift in the discovery of eye disease-associated genetic...
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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
BackgroundWhole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and...
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HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases
The human leukocyte antigen (HLA) region on chromosome 6 is strongly associated with many immune-mediated and infection-related diseases. Due to its...
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Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
BackgroundMutations within the COL12A1 gene have been linked with the onset of congenital Ullrich muscular dystrophy 2 (UCMD2) and Bethlem myopathy....
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Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data
BackgroundCOVID-19 caused by the SARS-CoV-2 infection may result in various disease symptoms and severity, ranging from asymptomatic, through mildly...
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The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups
BackgroundInfertility is a common and rapidly growing health issue around the world. The genetic analysis based on the infertile population is...
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Whole‐exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk
Ischemic stroke represents a significant societal burden across the globe. Rare high penetrant monogenic variants and less pathogenic common single...
