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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genetic Screens02:46

Genetic Screens

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 result in visible changes...
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Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Network-based methods for human disease gene prediction.

Xiujuan Wang1, Natali Gulbahce, Haiyuan Yu

  • 1Department of Biological Statistics and Computational Biology and Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14850, USA.

Briefings in Functional Genomics
|July 19, 2011
PubMed
Summary
This summary is machine-generated.

Network-based computational methods help prioritize disease genes by analyzing molecular networks. These approaches are crucial for understanding complex traits and uncovering the cellular mechanisms of human diseases.

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Last Updated: May 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genomics
  • Systems Biology
  • Bioinformatics

Background:

  • Complex traits and Mendelian diseases often defy simple genotype-phenotype explanations.
  • Human diseases are increasingly viewed as resulting from disruptions in cellular systems and molecular networks.
  • Genes linked to similar diseases frequently cluster within molecular network neighborhoods.

Purpose of the Study:

  • To review state-of-the-art network-based computational methods for disease gene prioritization.
  • To explore how these methods aid in unraveling the molecular basis of human diseases.

Main Methods:

  • Leveraging protein interactome networks.
  • Integrating large-scale genomic data.
  • Incorporating disease phenotype information.

Main Results:

  • Identification of novel disease-associated genes.
  • Prioritization of candidate genes based on network proximity and other data.
  • Advancement in understanding disease etiology through network analysis.

Conclusions:

  • Network-based approaches are powerful tools for disease gene discovery.
  • Understanding molecular network perturbations is key to deciphering disease mechanisms.
  • These computational strategies enhance our ability to link genes to diseases and their underlying cellular processes.