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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 advent of these technologies resulted in a rapid intensification in the scope and speed of completion of genome sequencing projects. The first complete genome sequence of a eukaryotic organelle, the human mitochondrion (16,568 bp, about 16.6 kb [kilobase]), was reported in 1981, [28] and the first chloroplast genomes followed in 1986.
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 ...
DNA binding sites are regions in the genome sequence that bind to and interact with specific proteins. They play an important role in DNA replication and repair, transcriptional regulation, and viral infection. Binding site prediction involves the use of one of the following two methods: [49] Sequence similarity based methods. They consist in ...
The shotgun sequencing technique (used by The Institute for Genomic Research (TIGR) to sequence the first bacterial genome, Haemophilus influenzae) [26] generates the sequences of many thousands of small DNA fragments (ranging from 35 to 900 nucleotides long, depending on the sequencing technology). The ends of these fragments overlap and, when ...
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