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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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DNA as a Genetic Template02:05

DNA as a Genetic Template

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Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
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Modern Molecular Taxonomy

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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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Related Experiment Video

Updated: Dec 1, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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MobiDetails: online DNA variants interpretation.

David Baux1, Charles Van Goethem2, Olivier Ardouin3

  • 1Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, F-34000, France. d-baux@chu-montpellier.fr.

European Journal of Human Genetics : EJHG
|November 8, 2020
PubMed
Summary
This summary is machine-generated.

MobiDetails is a free online tool that aids in interpreting DNA variants for molecular diagnostics. It integrates diverse data sources to support accurate genetic variant analysis, crucial for personalized medicine.

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Related Experiment Videos

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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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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Diagnostics

Background:

  • Accurate interpretation of DNA variants is critical for patient care and familial outcomes, especially with the rise of personalized medicine.
  • Existing tools may lack comprehensive data integration for efficient variant interpretation.

Purpose of the Study:

  • To introduce MobiDetails, an expert online application designed to facilitate DNA variant interpretation.
  • To provide a centralized platform integrating multiple data sources for molecular diagnosis.

Main Methods:

  • MobiDetails integrates population genetics data, predictive tools, Human Genome Variation Society (HGVS) nomenclature, curated databases, and annotations.
  • The application processes exonic/intronic substitutions and small insertions/deletions across over 18,000 human genes.
  • It is a responsive website accessible via mobile devices and tablets.

Main Results:

  • MobiDetails offers real-time annotation of submitted DNA variants.
  • The tool consolidates data from diverse public resources, enhancing the interpretation process.
  • It provides a user-friendly interface for accessing comprehensive variant information.

Conclusions:

  • MobiDetails serves as a valuable, freely accessible resource for researchers and clinicians in molecular diagnostics.
  • The tool supports accurate DNA variant interpretation, contributing to advancements in personalized medicine.
  • Its comprehensive data integration and accessibility enhance its utility in clinical settings.