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Related Concept Videos

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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RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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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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Related Experiment Video

Updated: Oct 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Exome Sequencing IDs Hidden Disease Variants

    Cancer Discovery
    |November 16, 2021
    PubMed
    Summary

    Researchers analyzed exome sequencing data from over 454,000 individuals to find rare DNA variants impacting disease risk. The study identified 564 genes with variants affecting health, including 15 cancer-associated genes.

    Area of Science:

    • Genetics
    • Genomics
    • Human Health

    Background:

    • Understanding genetic contributions to disease is crucial for developing targeted therapies.
    • Rare DNA variants can significantly influence an individual's susceptibility to various health conditions.
    • Large-scale genomic studies are essential for uncovering novel genetic associations.

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