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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.
Single-cell DNA genome sequencing involves isolating a single cell, amplifying the whole genome or region of interest, constructing sequencing libraries, and then applying next-generation DNA sequencing (for example Illumina, Ion Torrent). Single-cell DNA sequencing has been widely applied in mammalian systems to study normal physiology and ...
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 ...
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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).
DNA sequencing is the process of determining the nucleotide order of a given DNA fragment. So far, most DNA sequencing has been performed using the chain termination method developed by Frederick Sanger. This technique uses sequence-specific termination of a DNA synthesis reaction using modified nucleotide substrates.
A graphical diagram depicting the in trans template dependant activity of terminal deoxynucleotidyl transferase. Loop1 is highlighted in red. Loop1 is highlighted in red. Polymerase μ and polymerase λ exhibit similar in trans templated dependant synthetic activity to TdT, but without similar dependence on downstream double-stranded DNA. [ 27 ]
Samples may be different individuals, tissues, environments or health conditions. In this example, expression of gene set 1 is high and expression of gene set 2 is low in samples 1, 2, and 3. [51] [129] Quantification of sequence alignments may be performed at the gene, exon, or transcript level.