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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 .
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]
By 2003, the Human Genome Project's shotgun sequencing methods had been used to produce a draft sequence of the human genome; it had a 92% accuracy. [ 60 ] [ 61 ] [ 62 ] In 2022, scientists successfully sequenced the last 8% of the human genome.
This sequencing method is based on reversible dye-terminators that enable the identification of single nucleotides as they are washed over DNA strands. It can also be used for whole-genome and region sequencing, transcriptome analysis, metagenomics, small RNA discovery, methylation profiling, and genome-wide protein-nucleic acid interaction ...
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 ...
Illumina also uses the DNA colony sequencing technology, invented in 1997 by Pascal Mayer and Laurent Farinelli [8] and which was acquired by Solexa in 2004 from Manteia Predictive Medicine. It is being used to perform a range of analyses, including whole genome resequencing, gene-expression analysis, and small ribonucleic acid (sRNA) analysis.
As sequencing technology continues to improve, however, a new generation of effective fast turnaround benchtop sequencers has come within reach of the average academic laboratory. [50] [51] On the whole, genome sequencing approaches fall into two broad categories, shotgun and high-throughput (or next-generation) sequencing. [9]
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing.
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