Whole exome sequencing (WES) is a widely used technique in both medical studies and
clinical practice. However, a number of studies show that the results produced by different …

In this research, we propose a pipeline system to identify disease-causal genes in whole
exome sequencing data. The pipeline automates the execution of the following steps: 1) …

Whole exome sequencing, owing to its low cost and computational burden, has become the
standard for causal gene detection in disease and treatment management. This article …

Whole exome sequencing (WES) is widely used as first-tier analysis in clinical investigation.
The increased importance of WES has necessitated the development of a completely …

Whole exome sequencing (WES) is a next-generation sequencing (NGS)-based test in
which the protein-coding regions of all of a patient's genes (known as the exome) are tested …

Background With the advent of next-generation methodology, sequencing of the whole
exome of a patient has become economically viable for clinical diagnosis of genetic …

Methods Starting from raw sequence data, we first performed quality statistics and filtering of
sequence reads and then aligned them to a reference genome. To this end, BWA was used …

Exome analysis is potentially a cost effective approach for detecting mutations in human
body. It is preferred widely over WGS (Whole Genome Sequencing) since it focuses upon …

Background: Next-generation sequencing (NGS) testing has two analytical processes, wet
bench and bioinformatics process. Exome sequencing covers about 20000 human protein …

Whole Exome Sequencing (WES) is the application of the next‐generation technology to
determine the variations in the exome and is becoming a standard approach in studying …