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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Related Experiment Video

Updated: Apr 13, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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The variation game: Cracking complex genetic disorders with NGS and omics data.

Hongzhu Cui1, Andi Dhroso1, Nathan Johnson1

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Methods (San Diego, Calif.)
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Summary

Next Generation Sequencing (NGS) and omics reveal four key molecular mechanisms in complex diseases. These variations, including genetic and epigenetic changes, often interact, impacting pathways like the P53 network.

Keywords:
Alternative splicingCNVComplex diseaseInteractomeNGSNext generation sequencingOmicsSNPSNVVariation

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Area of Science:

  • Genomics and Molecular Biology
  • Computational Biology
  • Disease Mechanism Research

Background:

  • Next Generation Sequencing (NGS) and high-throughput omics methods advance molecular understanding of complex diseases.
  • Complex genetic diseases like cancer, neurological disorders, heart disease, and diabetes involve intricate molecular mechanisms.
  • Understanding these mechanisms is crucial for developing effective diagnostics and therapeutics.

Purpose of the Study:

  • To review four fundamental regulatory mechanisms in complex genetic diseases: genetic variations, copy-number variations, posttranscriptional variations, and epigenetic variations.
  • To highlight the interconnectedness of these molecular malfunctions in disease pathogenesis.
  • To emphasize the role of Next Generation Sequencing (NGS) in detecting these variations and the need for integrated omics data analysis.

Main Methods:

  • Review of current literature on Next Generation Sequencing (NGS) applications in identifying genetic, copy-number, posttranscriptional, and epigenetic variations.
  • Analysis of how these variations contribute to complex diseases at the molecular level.
  • Case study examining the impact of variations on the protein-protein interaction (PPI) network of the P53 protein in cancer.

Main Results:

  • Four primary regulatory mechanisms (genetic, copy-number, posttranscriptional, epigenetic variations) are implicated in complex genetic diseases.
  • These molecular malfunctions are often interconnected and co-occur within the same disease, affecting shared genes or pathways.
  • Variations can rewire critical biological networks, such as the P53-centered PPI network, influencing disease progression.

Conclusions:

  • Complex genetic disorders exhibit multi-layered molecular complexity.
  • The integration of Next Generation Sequencing (NGS) and omics data is essential for deciphering these complexities.
  • Development of advanced computational methods is critical for analyzing integrated data and understanding disease mechanisms.