An Overview of Whole-Genome Sequencing (WGS)

By: Vinotha D July 4, 2022 |01:40 PM Technology

Whole-genome sequencing (WGS) is a comprehensive method for analysing entire genomes. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks. [1] Rapidly dropping sequencing costs and the ability to produce large volumes of data with today’s sequencers make whole-genome sequencing a powerful tool for genomics research.

Figure 1: The process of Whole-genome sequencing (WGS) [2]

While this method is commonly associated with sequencing human genomes, the scalable, flexible nature of next-generation sequencing (NGS) technology makes it equally useful for sequencing any species, such as agriculturally important livestock, plants, or disease-related microbes. The process of Whole-genome sequencing (WGS) is shown in figure 1.

Scientists conduct [3] whole genome sequencing by following these four main steps:

  • DNA shearing: Scientists begin by using molecular scissors to cut the DNA, which is composed of millions of bases: A’s, C’s, T’s and G’s, into pieces that are small enough for the sequencing machine to read.
  • DNA bar-coding: Scientists add small pieces of DNA tags, or bar codes, to identify which piece of sheared DNA belongs to which bacteria. This is similar to how a bar code identifies a product at a grocery store.
  • Whole genome sequencing: The bar-coded DNA from multiple bacteria are combined and put in the whole genome sequencer. The sequencer identifies the A’s, C’s, T’s, and G’s, or bases, that make up each bacterial sequence. The sequencer uses the bar code to keep track of which bases belong to which bacteria.
  • Data analysis: Scientists use computer analysis tools to compare bacterial sequences and identify differences. The number of differences can tell the scientists how closely related the bacteria are, and how likely it is that they are part of the same outbreak.
  • Many known diseases can be diagnosed through the use of WGS. For children whose diseases have not been diagnosed, [4] WGS may offer the opportunity to discover a new genetic cause.Some unexplained conditions where WGS might uncover an underlying diagnosis include:

  • Intellectual disability/severe learning problems
  • Developmental issues, including delays in walking or talking
  • Brain abnormalities
  • Seizures
  • Abnormalities of the head, neck, and face
  • Hearing and vision problems
  • Heart and lung problems
  • Intestinal problems
  • Short stature/severe skeletal abnormalities
  • Limb (arms, legs, hands and feet) abnormalities
  • Immune deficiencies or recurrent infections
  • Recurrent or severe unexplained illnesses
  • References:
    1. https://www.illumina.com/techniques/sequencing/dna-sequencing/whole-genome-sequencing.html
    2. https://www.biobasic-asia.com/whole-genome-sequencing/
    3. https://www.cdc.gov/pulsenet/pathogens/wgs.html
    4. https://www.yalemedicine.org/conditions/whole-genome-sequencing
    Cite this article:

    Vinotha D (2022), An Overview of Whole-Genome Sequencing (WGS), AnaTechMaz, pp.206

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