Search
Search Results
-
OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing...
-
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...
-
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays
Whole exome sequencing (WES)-based assays undergo rigorous validation before being implemented in diagnostic laboratories. This validation process...
-
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...
-
COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome
BackgroundNeoantigens have emerged as a promising area of focus in tumor immunotherapy, with several established strategies aiming to enhance their...
-
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...
-
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...
-
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...
-
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...
-
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)...
-
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
BackgroundCornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities....
-
Evaluating the Genetic Role of Circadian Clock Genes in Parkinson’s Disease
Increasing evidence suggests that circadian dysfunction is related to Parkinson’s disease (PD). However, the role of circadian clock genes in PD is...
-
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
BackgroundTo date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding...
-
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While standardized methods, such as the genome analysis toolkit...
-
Inhibitory Effect of Two Carbonic Anhydrases Inhibitors on the Activity of Major Cytochrome P450 Enzymes
Background and ObjectivesBoth AW-9A (coumarin derivative) and WES-1 (sulfonamide derivative) were designed and synthesized as potential selective...
-
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, prognosis prediction,...
-
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may...
-
Molecular Genetic Testing Approaches for Retinitis Pigmentosa
Retinitis pigmentosa (RP) affects approximately 1 in 4000 individuals. It has many different genetic etiologies and therefore diagnosis can be...
-
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
BackgroundDilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic...
-
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...
