What is Next Generation Sequencing?
A DNA sequencing technology that
has revolutionised genomic research is known as next generation sequencing
(NGS), massively parallel computing (MPC), or deep sequencing. The entire human
genome can be sequenced using NGS in just one day. Contrarily, it took more
than ten years for the human genome to be fully deciphered using the earlier
Sanger sequencing technology. NGS has largely replaced traditional Sanger
sequencing in genome research, but it has not yet permeated routine clinical
practise. This article's objective is to review NGS's potential uses in
paediatrics.
The Global
Next Generation Sequencing Market is estimated to be valued at US$ 42.958 million in 2022
and is expected to exhibit a CAGR of
4.3% during the forecast period (2022-2030).
A thorough discussion of the
various NGS platforms and their various sequencing technologies is outside the
purview of this article. However, millions of tiny DNA fragments are
simultaneously sequenced by all NGS platforms. These pieces are put together
using bioinformatics analyses, which map each read to the human reference
genome. The human genome contains three billion bases, each of which has been
sequenced multiple times to provide high depth, accurate data, and an
understanding of unexpected DNA variation. The 22 000 coding genes or a small
number of individual genes can be sequenced using NGS, which can also be used
to focus on particular areas of interest.
Compared to Sanger sequencing,
NGS captures a wider range of mutations. Small base changes (substitutions),
DNA insertions and deletions, large genomic deletions of exons or entire genes,
and rearrangements like inversions and translocations make up the spectrum of
DNA variation in a human genome. Traditional Sanger sequencing is only capable
of detecting small insertions, deletions, and substitutions.
Comments
Post a Comment