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Related Concept Videos

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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...
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,...
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...
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...

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Related Experiment Video

Updated: Jun 8, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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NDRC: A Disease-Causing Genes Prioritized Method Based on Network Diffusion and Rank Concordance.

Minghong Fang, Xiaohua Hu, Yan Wang

    IEEE Transactions on Nanobioscience
    |June 17, 2015
    PubMed
    Summary

    Prioritizing disease-causing genes is crucial. A new method, NDRC, effectively identifies isolated and loosely connected genes, outperforming existing approaches for better drug design and disease mechanism understanding.

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    Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
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    Area of Science:

    • Genetics and Genomics
    • Bioinformatics
    • Computational Biology

    Background:

    • Accurate disease-causing gene prioritization is vital for understanding disease mechanisms and developing targeted therapies.
    • Existing methods often fail to prioritize isolated (dangling) or loosely connected genes within biological networks.
    • Current approaches prioritize highly connected genes, limiting their effectiveness for complex or poorly understood diseases.

    Purpose of the Study:

    • To develop a novel method for prioritizing disease-causing genes that overcomes limitations of existing approaches.
    • To improve the identification of candidate genes, including those that are isolated or loosely connected in networks.
    • To enhance biomedical applications such as drug design through more accurate gene prioritization.

    Main Methods:

    • Proposed a new disease-causing gene prioritization method named Network Diffusion and Rank Concordance (NDRC).
    • Evaluated NDRC using leave-one-out cross-validation across 1931 diseases with known involved genes.
    • Compared NDRC performance against established methods like Random Walk with Restart (RWR), VAVIEN, DADA, and PRINCE.

    Main Results:

    • NDRC successfully ranked the true causal gene first in 849 out of 2542 evaluated cases.
    • NDRC significantly outperformed existing methods in identifying loosely connected disease genes.
    • NDRC effectively prioritized dangling genes, identifying them as potential candidate disease genes.

    Conclusions:

    • The NDRC method offers a significant advancement in disease-causing gene prioritization, particularly for challenging gene sets.
    • NDRC's ability to identify isolated and loosely connected genes enhances its utility for studying complex diseases.
    • Application of NDRC to specific diseases revealed modular structures within complex disease-causing genes linked to distinct phenotypes.