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. 2024 Feb 15;25(4):2320. doi: 10.3390/ijms25042320

Table 1.

Comparative analysis of genetic techniques, their advantages, and limitations.

S.No. Techniques Methods Benefits Disadvantages
1 Sanger Sequencing Traditional method involving the sequencing of DNA fragments using chain-termination dideoxy nucleotides.
  • High accuracy in base calling

  • Well-established and widely used sequencing method

  • Limited throughput, suitable for sequencing suitable for sequencing small regions or individual genes

  • Relatively higher cost per base compared to NGS

2 GWAS
(Genome-wide association studies)
Analyze the genetic variation across the entire genome to identify the link between specific genetic variants and a particular trait or disease.
  • High-throughput screening of genetic variation

  • Can detect common variants associated with disease risk

  • Limited ability to detect rare variants with small effect sizes.

  • Lack of functional information about identified variants

3 WGS
(Whole Genome Sequencing)
Involves sequencing the entire genome to identify both coding and non-coding variants associated with disease.
  • Comprehensive coverage of entire genome including regulatory region

  • Identifies both rare and common variants

  • Higher cost and computational resources required.

  • Challenges in interpreting non-coding variants and their functional consequences

4 WES
(Whole Exome Sequencing)
Focus on sequencing the protein coding region of genome to identify disease-associated variants.
  • Identifies rare coding variants with potentially large effect sizes

  • Provides information on functional consequences of variants

  • Limited coverage of non-coding regions, where regulatory variants may reside.

  • High cost

5 NGS
(Next-Generation Sequencing)
Utilizes high throughput sequencing technologies to sequence DNA or RNA molecule in parallel.
  • Enables rapid sequencing of large amount of DNA or RNA

  • Offers higher sensitivity and resolution compared to traditional sequencing methods

  • Requires sophisticated bioinformatics tools and computational resources.

  • Higher cost compared to traditional sequencing methods

6 LRS
(Long Read Sequencing)
Employs sequencing platforms that generate reads spanning hundreds to thousands of base pairs, providing more contiguous sequence information.
  • Enables sequencing of longer DNA fragments, allowing for better detection of structural variants

  • Facilitates assembly of complex genomic region and repetitive sequences

  • Generally lower throughput compared to short read sequencing platforms

  • Higher errors rates in reads compared to short read sequencing