SUMMARY Whole-exome sequencing (WES) has extensively been used in cancer genome studies; however, the use of WES data in the study of loss of heterozygosity or more generally allelic imbalance (AI) has so far been very limited, which highlights the need for user-friendly and flexible software that can handle low-quality datasets. We have developed a statistical approach, ExomeAI, for the detect...

Summary Whole-exome sequencing (WES) data have been used for identifying copy number aberrations in cancer cells. Nonetheless, the use of WES is still challenging for identification of focal aberrant regions in multiple samples that may contain cancer driver genes. In this study, we developed a wavelet-based method for identifying focal genomic aberrant regions in the WES data from cancer cells...

In order to reduce port pollution and carbon emissions improve the utilization rate of clean energy, a microgrid based on we-energies (WEs) its polymorphic distributed low-carbon energy management method is proposed. First, this study considers variety heterogeneous Wes, such as ship (SWEs), establish system for microgrids achieve reliable information exchange between WEs under different commun...

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...

PURPOSE The aim of this study was to assess the esthetic outcome of maxillary anterior single implants by comparing the esthetic perception of dental professionals and patients. MATERIALS AND METHODS Twenty-three patients with single implants in the esthetic zone were enrolled in this study. Dentists of four different dental specialties (Three orthodontists, three oral surgeons, three prostho...

conclusions by applying wes, both novel and known scz pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified. background schizophrenia (scz) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity. much of the genetic architecture of the disorder has not yet been clearly elucidate...

Runs of homozygosity (ROH) are sizeable stretches of homozygous genotypes at consecutive polymorphic DNA marker positions, traditionally captured by means of genome-wide single nucleotide polymorphism (SNP) genotyping. With the advent of next-generation sequencing (NGS) technologies, a number of methods initially devised for the analysis of SNP array data (those based on sliding-window algorith...

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted ge...