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Related Concept Videos

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

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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

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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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Modern Molecular Taxonomy01:29

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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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Genomics02:02

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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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Behavioral Genetics and Its Designs01:23

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Related Experiment Video

Updated: Mar 23, 2026

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

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The Increasing Importance of Gene-Based Analyses.

Elizabeth T Cirulli1

  • 1Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, North Carolina, United States of America.

Plos Genetics
|April 8, 2016
PubMed
Summary

Genome and exome sequencing studies often identify new disease genes using rare variants. However, many studies lack rigorous methods, potentially leading to misleading findings in genetic disease research.

Area of Science:

  • Genetics
  • Genomics
  • Bioinformatics

Background:

  • Genome and exome sequencing have identified numerous genes associated with rare diseases.
  • Interpreting the significance of rare variants in disease gene discovery requires robust analytical methods.

Purpose of the Study:

  • To review 150 exome sequencing studies claiming new disease gene discoveries.
  • To assess adherence to best-practice guidelines for rare variant data interpretation.
  • To evaluate the rigor of gene-based analyses and co-segregation data presented.

Main Methods:

  • Systematic review of 150 exome sequencing studies.
  • Assessment of control group analysis for rare variants.
  • Evaluation of co-segregation data for statistical significance.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Main Results:

  • The use of gene-based analyses has increased but remains underutilized (less than 40% in 2015).
  • Few studies (10%) presented statistically significant co-segregation data.
  • Identified genes explain a decreasing proportion of cases, highlighting the need for stringent methods.

Conclusions:

  • Many disease gene discovery studies lack sufficient methodological rigor.
  • Improved gene-based analyses and co-segregation data are crucial for accurate genetic discovery.
  • Journal editors and reviewers must enforce stricter evidence standards to prevent misleading publications.