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  2. Exome sequencing - Wikipedia

    en.wikipedia.org/wiki/Exome_sequencing

    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.

  3. List of RNA-Seq bioinformatics tools - Wikipedia

    en.wikipedia.org/wiki/List_of_RNA-Seq...

    Taverna is an open source and domain-independent Workflow Management System – a suite of tools used to design and execute scientific workflows and aid in silico experimentation. TCW is a Transcriptome Computational Workbench. TRAPLINE a standardized and automated pipeline for RNA sequencing data analysis, evaluation and annotation.

  4. RNA-Seq - Wikipedia

    en.wikipedia.org/wiki/RNA-Seq

    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).

  5. Transcriptomics technologies - Wikipedia

    en.wikipedia.org/wiki/Transcriptomics_technologies

    A single-end sequence is usually quicker to produce, cheaper than paired-end sequencing and sufficient for quantification of gene expression levels. Paired-end sequencing produces more robust alignments/assemblies, which is beneficial for gene annotation and transcript isoform discovery. [10]

  6. Exome - Wikipedia

    en.wikipedia.org/wiki/Exome

    Whole-exome sequencing is a recent technology that has led to the discovery of various genetic disorders and increased the rate of diagnoses of patients with rare genetic disorders. Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30–50% of patients who were thought to have rare Mendelian disorders.

  7. Bioinformatics - Wikipedia

    en.wikipedia.org/wiki/Bioinformatics

    A bioinformatics workflow management system is a specialized form of a workflow management system designed specifically to compose and execute a series of computational or data manipulation steps, or a workflow, in a Bioinformatics application. Such systems are designed to

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