Ads
related to: whole genome sequencingAdvanced NGS Platforms, State-Of-The-Art Technologies, Coupled With Specialized Scientists. Detect The Full Range Of Genetic Variation. Expert, Save Time&Money
Comprehensive Cancer WGS Bioinformatics Analysis. Identify Genomic Alterations In Cancer. Tumor Profiling & Genome Sequencing QC Standards to Enable Assay Confidence. Free Quote!
Search results
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.
Learn how Illumina offers comprehensive methods and products for analyzing entire genomes of any species, such as human, plant, or microbe. Explore the advantages, applications, and advances of whole-genome sequencing using next-generation sequencing (NGS) platforms.
Aug 11, 2021 · Whole genome sequencing analysis. (a) Example four lines of each read in a FASTQ file. Components in the FASTQ file are labeled with a text box of the same color, which include the sequence ID, nucleotide sequence, and quality score. (b) Example reads mapped to a reference genome (black).
- 10.1002/bmb.21561
- Sep-Oct 2021
- Overview
- Sequencing methods: from genes to genomes
- Next-generation technologies
- GeneratedCaptionsTabForHeroSec
whole genome sequencing, the act of deducing the complete nucleic acid sequence of the genetic code, or genome, of an organism or organelle (specifically, the mitochondrion or chloroplast). The first whole genome sequencing efforts, carried out in 1976 and 1977, focused respectively on the bacteriophages (bacteria-infecting viruses) MS2 and ΦX174, ...
In 1944 Canadian-born American bacteriologist Oswald Avery and colleagues recognized that the hereditary material passed from parent to offspring was DNA. Subsequent genetic analyses carried out by other scientists on viruses, bacteria, yeast, fruit flies, and nematodes demonstrated that the intentional induction of mutations that disrupted the genetic code, combined with the analysis of observable traits (phenotypes) produced by such mutations, were important approaches to the study of gene function. Such studies, however, were able to query only a fraction of genes in a genome.
The first sequencing methods (the Maxam-Gilbert and Sanger methods), developed in the 1970s, were deployed to reveal the nucleic acid composition of individual genes and the relatively small genomes of certain viruses. The sequencing of larger genomes remained out of reach conceptually, because of high costs and the effort required, until the launch of the Human Genome Project (HGP) in 1990 in the United States. Although the project was not universally embraced, some recognized that technology had evolved to the point where whole genome sequencing of larger genomes could be considered realistically. Particularly important was the development of automated sequencing machines that employed fluorescence instead of radioactive decay for the detection of the sequencing reaction products. Automation offered new possibilities for scaling up the production of DNA sequencing to tackle large genomes.
An early aim of the HGP was to obtain the whole genome sequences of important experimental model organisms, such as the yeast Saccharomyces cerevisiae, the fruit fly Drosophila melanogaster, and the nematode Caenorhabditis elegans. In sequencing those smaller and therefore more-tractable genomes, three outcomes were anticipated. First, the sequences would be of value to the research community, serving to accelerate efforts to understand gene function by using model systems. Second, the experience gained would inform approaches to sequencing the human genome and other similarly sized genomes. Third, functional relationships between sequences of different organisms would be revealed as a consequence of cross-species sequence similarity. Ultimately, with the involvement of more than one thousand scientists worldwide, two human genome sequences were published in 2001. With this development came established methods and analytic standards that were used to sequence other large genomes.
A major challenge for de novo sequencing, in which sequences are assembled for the very first time (such as with the HGP), is the production of individual DNA reads that are of sufficient length and quality to span common repetitive elements, which are a general property of complex genome sequences and a source of ambiguity for sequence assembly. In many of the early de novo whole genome sequencing projects, emphasis was placed on the production of so-called reference sequences, which were of enduring high quality and would serve as the foundation for future experimentation.
An important approach used by many projects that sequenced large genomes involved hierarchical shotgun sequencing, in which segments of genomic DNA were cloned (copied) and arranged into ordered arrays. Those ordered arrays were known as physical maps, and they served to break large genomes into thousands of short DNA fragments. Those short fragments were then aligned, such that identical sequences overlapped, thereby enabling the fragments to be linked together to yield the full-length genomic sequence. The fragments were relatively easy to manipulate in the laboratory, could be apportioned among collaborating laboratories, and were amenable to the detailed error-correction exercises important in generating the high-quality reference sequences sought by HGP scientists. Some genome projects were conducted without the use of such maps, using instead an approach called whole genome shotgun sequencing. This approach avoided the time and expense needed to create physical maps and provided more-rapid access to the DNA sequence.
Special offer for students! Check out our special academic rate and excel this spring semester!
Although the first whole genome sequences were in themselves technological and scientific feats of significance, the scientific opportunities and the host of technologies those projects spawned have had even greater impacts. Among the most significant technological developments has been in the area of next-generation DNA sequencing technologies for...
Learn what whole genome sequencing is, how it works, and why it is important for biology and medicine. Explore the history of whole genome sequencing, from the first bacteriophages to the Human Genome Project, and the methods used to sequence large genomes.
- Marco Marra
May 10, 2021 · Whole-genome sequencing has a high diagnostic yield in people who are very likely to have single-gene diseases. These patients can be defined by childhood, juvenile and early-onset diseases (likely to be due to de novo or autosomal recessive mutations, if genetic) and familial diseases where there are many family members affected by disease.
- Huw R Morris, Henry Houlden, James Polke
- 2021
Jun 24, 2014 · Genome-scale data provide information beyond neutral genetic variation or candidate gene approaches (e.g. major histocompatibility complex genes; Hedrick 1999) and thus enable screening for selectively important variation and assessing the adaptive potential of populations (Primmer 2009 ).
Jun 20, 2023 · There are two different strategies for doing this: clone-by-clone sequencing, which relies on the creation of a physical map first then sequencing, and. whole genome shotgun sequencing, which sequences first and does not require a physical map.
