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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. Helix (genomics company) - Wikipedia

   en.wikipedia.org/wiki/Helix_(genomics_company)

   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 ]

4. 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.

5. Whole genome sequencing - Wikipedia

   en.wikipedia.org/wiki/Whole_genome_sequencing

   Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. [2] This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.

6. De novo transcriptome assembly - Wikipedia

   en.wikipedia.org/wiki/De_novo_transcriptome_assembly

   Whereas high sequence coverage for a genome may indicate the presence of repetitive sequences (and thus be masked), for a transcriptome, they may indicate abundance. In addition, unlike genome sequencing, transcriptome sequencing can be strand-specific, due to the possibility of both sense and antisense transcripts. Finally, it can be difficult ...

7. List of RNA-Seq bioinformatics tools - Wikipedia

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

   Some important questions like sequencing depth/coverage or how many biological or technical replicates must be carefully considered. Design review. [5] PROPER: PROspective Power Evaluation for RNAseq. RNAtor: an Android Application to calculate optimal parameters for popular tools and kits available for DNA sequencing projects.