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Exome sequencing workflow: part 1. Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.
DROP The detection of RNA Outliers Pipeline (DROP) is an integrative workflow to detect aberrant expression, aberrant splicing, and mono-allelic expression from raw sequencing files. [61] EBSeq is a Bioconductor package for identifying genes and isoforms differentially expressed (DE) across two or more biological conditions in an RNA-seq ...
A workflow management system used for building and running scalable and reproducible bioinformatics pipelines, especially in cloud and high-performance computing environments. Linux, macOS, Windows: Apache License 2.0 Nextflow Team [6] PathVisio: Desktop software for drawing, analyzing, and visualizing biological pathways Linux, macOS, Windows ...
Calling the CNA information from RNA-Seq data is not straightforward because of the differences in gene expression, which lead to the read depth variance of different magnitudes across genes. Due to these difficulties, most of these analyses are usually done using whole-genome sequencing / whole-exome sequencing (WGS/WES).
With a large number of bioinformatics workflow systems to choose from, [13] it becomes difficult to understand and compare the features of the different workflow systems. . There has been little work conducted in evaluating and comparing the systems from a bioinformatician's perspective, especially when it comes to comparing the data types they can deal with, the in-built functionalities that ...
Helix uses NGS to sequence a proprietary assay called Exome+, a version of Exome sequencing which according to the company provides 100 times more data than was previously available. [9] Exome+ includes all 22,000 protein-coding genes as well as additional regions known to be of interest. [ 10 ]
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