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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 .
The circular chromosome contains 1,830,137 bases and its publication in the journal Science [51] marked the first published use of whole-genome shotgun sequencing, eliminating the need for initial mapping efforts. By 2001, shotgun sequencing methods had been used to produce a draft sequence of the human genome. [52] [53]
A finished sequence, covering more than 95% of the genome at approximately 99.99% accuracy; Producing a truly high-quality finished sequence by this definition is very expensive. Thus, most human "whole genome sequencing" results are draft sequences (sometimes above and sometimes below the accuracy defined above). [13]
The process of extensive BAC library creation and tiling path selection, however, make hierarchical shotgun sequencing slow and labor-intensive. Now that the technology is available and the reliability of the data demonstrated, [14] the speed and cost efficiency of whole-genome shotgun sequencing has made it the primary method for genome ...
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 .
It is the first step in sequence analysis to limit wrong conclusions due to poor quality data. The tools used at this stage depend on the sequencing platform. For instance, FastQC checks the quality of short reads (including RNA sequences), Nanoplot or PycoQC are used for long read sequences (e.g. Nanopore sequence reads), and MultiQC ...
The final step of the platform is the sequencing. Libraries generated can be directly used for single cell whole transcriptome sequencing or target sequencing workflows. The sequencing is performed by using the Illumina dye sequencing method. This sequencing method is based on sequencing by synthesis (SBS) principle and the use of reversible ...
Segmental duplications are DNA segments of more than 1000 base pairs that are repeated in the genome with more than 90% sequence identity. Two strategies used for their identification are WGAC and WSSD: [47] Whole-Genome Assembly Comparison (WGAC). It aligns the entire genome to itself in order to identify repeated sequences after filtering out ...
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