scholarly journals Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

2014 ◽  
Vol 172 (1) ◽  
pp. 94-100 ◽  
Author(s):  
T. Takeichi ◽  
L. Liu ◽  
K. Fong ◽  
L. Ozoemena ◽  
J.R. McMillan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Mutation Detection ◽  
Whole Exome

scholarly journals Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients

2021 ◽  
Author(s):  
Suci Widhiati ◽  
Retno Danarti ◽  
Niken Trisnowati ◽  
Dewajani Purnomosari ◽  
Tri Wibawa ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Novel Mutations ◽  
Whole Exome

scholarly journals Identification of a de novo mutation in KRT5 gene underlying epidermolysis bullosa simplex by whole exome sequencing in a Vietnamese patient

2021 ◽  
Vol 19 (2) ◽  
pp. 223-228
Author(s):  
Ma Thi Huyen Thuong ◽  
Dang Tien Truong ◽  
Nguyen Hai Ha ◽  
Nguyen Dang Ton
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
De Novo ◽  
Recurrence Risk ◽  
Pathogenic Mutation ◽  
De Novo Mutation ◽  
Causative Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Whole Exome

Epidermolysis bullosa simplex (EBS) is a group of epidermolysis bullosa (EB) and accounts for 75-85% EB cases. Most EBS patients are caused by mutations in KRT5 or KRT14, encoding for keratin 5 and keratin 14, respectively, which impair the structural entirety of paired intermediate filaments expressed in the fracture of basal keratinocytes and subsequent blistering of the epithelium. This study aimed to identify the causative mutation in a Vietnamese EB case. Whole exome sequencing (WES) was performed in the affected individual and revealed a de novo heterozygous pathogenic mutation in exon 7 of KRT5 gene, resulting in an amino acid change at position 477, with glutamic acid to lysine substitution (p.E477K). The KRT5 p.E477K was strong associated with the very severe or lethal of generalized severe EBS (GS-EBS), characterized by the severe symptoms at birth, improving with age and evolution to palmoplantar keratoderma and nail dysplasia. Our finding will aid the molecular diagnosis, prognosis prediction of the patient with GS-EBS due to p.E477K and significant genetic counselling the family concerning the recurrence risk for future pregnancies.

scholarly journals Achieving reproducibility and accuracy in cancer mutation detection with whole-genome and whole-exome sequencing

2019 ◽  
Author(s):  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutation Detection ◽  
Clinical Applications ◽  
Precision Oncology ◽  
Whole Genome ◽  
Artifact Detection ◽  
Factors Affecting ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs

AbstractClinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from errors introduced at each step of next generation sequencing (NGS). For NGS to successfully improve patient lives, discriminating between true mutations and artifacts is crucial.We systematically interrogated somatic mutations in paired tumor-normal cell lines to identify factors affecting detection reproducibility and accuracy. Different types of samples with varying input amount and tumor purity were processed using multiple library construction protocols. Whole-genome and whole-exome sequencing were carried out at six sequencing centers followed by processing with nine bioinformatics pipelines to evaluate their reproducibility. We identified artifacts due to sample and library processing and evaluated the capabilities and limitations of bioinformatics tools for artifact detection and removal.By examining the interaction and effect of various wet lab and computational parameters concomitantly, here we recommend actionable best practices for mutation detection in clinical applications using NGS technologies.

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