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Related Concept Videos

Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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Mutations in Microorganisms01:18

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Mismatch Repair01:20

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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In-vitro Mutagenesis01:16

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To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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How Do I Confirm that a New Mutation is Pathogenic?

Joanne Trinh1, Vera Tadic1, Christine Klein1

  • 1Institute of Neurogenetics Luebeck Germany.

Movement Disorders Clinical Practice
|March 15, 2019
PubMed
Summary
This summary is machine-generated.

Interpreting genetic variants from whole exome and genome sequencing is challenging. This tutorial introduces tools for movement disorder specialists to assess variant pathogenicity, aiding clinical diagnosis.

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) technologies like whole exome and whole genome sequencing are increasingly utilized in clinical diagnostics.
  • Interpreting the clinical significance of identified variants, particularly rare missense variants, remains a significant challenge for personalized medicine.
  • A systematic approach is needed for variant evaluation to ensure accurate clinical interpretation.

Purpose of the Study:

  • To provide an introductory tutorial on scoring variant pathogenicity.
  • To familiarize movement disorder specialists with online tools for variant interpretation.
  • To empower clinicians to independently assess the pathogenicity of genetic variants.

Main Methods:

  • The tutorial focuses on utilizing publicly available online tools for variant pathogenicity assessment.
  • It outlines a systematic approach to literature review and evidence gathering for variant interpretation.
  • Practical examples and guidance are provided for applying these tools in a clinical context.

Main Results:

  • The tutorial equips specialists with the knowledge to navigate and utilize online variant interpretation resources.
  • It facilitates a more standardized and reproducible method for assessing variant pathogenicity.
  • The aim is to improve the diagnostic yield and clinical utility of genetic sequencing data.

Conclusions:

  • Accessible tools and systematic approaches are crucial for interpreting complex genetic data in clinical practice.
  • Empowering specialists to evaluate variant pathogenicity enhances the application of genomic medicine.
  • This resource supports movement disorder specialists in making informed diagnostic decisions based on genetic findings.