In this issue of Pediatrics, McCullough et al use the tools of ethical analysis and argument to address the issues surrounding the disclosure of genome sequencing results, specifically whole exome sequencing (WES) and whole genome sequencing (WGS). From this analysis, they develop a framework for pediatricians to use in their practice to address the unique issues surrounding the disclosure of W...

Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders, Mendelian diseases, and common/complex traits. Genomic microarrays are often employed for CNV detection. More recently, whole-exome sequencing (WES) has enabled detection of clinically relevant point mutations and small insertion-deletion exome wide. We evaluated (de Ligt et a...

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomot...

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of co...

Abstract Purpose of Review Whole exome sequencing (WES) and whole-genome (WGS) are frontline approaches for the genetic diagnosis rare diseases. However, WES/WGS fails in up to 75% cases. Transcriptomics via RNA-sequencing (RNA-Seq) is a novel approach that aims increase diagnostic yield Recent Findings publications focus on success RNA-Seq increasing rates WES/WGS-negative patients 36% cases, ...

In this paper, an interval Type-2 fuzzy logic based pitch angle controller is proposed for fixed speed wind energy system (WES) to maintain the aerodynamic power at its rated value. The pitch angle reference is generated by the proposed controller which can compensate the non-linear characteristics of the pitch angle to the wind speed. The presence of third dimension in the Type-2 fuzzy logic c...

Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intes...

Whole exome sequencing (WES) was performed on stem cell transplant donor-recipient (D-R) pairs to determine the extent of potential antigenic variation at a molecular level. In a small cohort of D-R pairs, a high frequency of sequence variation was observed between the donor and recipient exomes independent of human leucocyte antigen (HLA) matching. Nonsynonymous, nonconservative single nucleot...

Dens evaginatus (DE) is a dental abnormality characterized by tubercles on the occlusal surfaces of teeth and associated with risk pulpal inflammation due to fractures. The cause DE remains unclear, as limited data are available determine its etiology. aim this study was investigate genetic background using whole-exome sequencing (WES). Saliva samples were collected from two patients Family A t...