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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps...
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Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
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Assessment of whole-exome sequencing results in neurogenetic diseases
Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES) has led to great advances...
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Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
Carrier screening can identify people at risk of conceiving pregnancies affected with inherited genetic disorders or who have a genetic disorder with...
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Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
BackgroundGenodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders....
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
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Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental disorders (NDD),...
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Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the...
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A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for...
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Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
BackgroundWhole-exome sequencing (WES) is an effective method in the prenatal setting for identification of the underlying genetic etiology of fetal...
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GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
BackgroundWhole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to...
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Whole-Exome Sequencing for Identification of Potential Sex-Biased Variants in Kawasaki Disease Patients
Kawasaki disease (KD) is an autoimmune disease of unknown etiology and has become a main cause of childhood acquired heart disease. KD is more...
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Whole exome sequencing improves genetic diagnosis of fetal clubfoot
ObjectiveThis retrospective study aimed to investigate the value of whole exome sequencing (WES) for clubfoot (CF) fetuses with or without other...
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The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES)...
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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
BackgroundLong QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening...
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing...
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and...
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Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic...
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Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing
BackgroundDilated cardiomyopathy (DCM) is one of the most frequent causes of heart failure and heart transplantation (HTx). The genetic basis of DCM...
