ABI Bioinformatics Guide 2024
  • INTRODUCTION
    • How to use the guide
  • MOLECULAR BIOLOGY
    • The Cell
      • Cells and Their Organelles
      • Cell Specialisation
      • Quiz 1
    • Biological Molecules
      • Carbohydrates
      • Lipids
      • Nucleic Acids (DNA and RNA)
      • Quiz 2
      • Proteins
      • Catalysis of Biological Reactions
      • Quiz 3
    • Information Flow in the Cell
      • DNA Replication
      • Gene Expression: Transcription
      • Gene Expression: RNA Processing
      • Quiz 4
      • Chromatin and Chromosomes
      • Regulation of Gene Expression
      • Quiz 5
      • The Genetic Code
      • Gene Expression: Translation
    • Cell Cycle and Cell Division
      • Quiz 6
    • Mutations and Variations
      • Point mutations
      • Genotype-Phenotype Interactions
      • Quiz 7
  • PROGRAMMING
    • Python for Genomics
    • R programming (optional)
  • STATISTICS: THEORY
    • Introduction to Probability
      • Conditional Probability
      • Independent Events
    • Random Variables
      • Independent, Dependent and Controlled Variables
    • Data distribution PMF, PDF, CDF
    • Mean, Variance of a Random Variable
    • Some Common Distributions
    • Exploratory Statistics: Mean, Median, Quantiles, Variance/SD
    • Data Visualization
    • Confidence Intervals
    • Comparison tests, p-value, z-score
    • Multiple test correction: Bonferroni, FDR
    • Regression & Correlation
    • Dimentionality Reduction
      • PCA (Principal Component Analysis)
      • t-SNE (t-Distributed Stochastic Neighbor Embedding)
      • UMAP (Uniform Manifold Approximation and Projection)
    • QUIZ
  • STATISTICS & PROGRAMMING
  • BIOINFORMATICS ALGORITHMS
    • Introduction
    • DNA strings and sequencing file formats
    • Read alignment: exact matching
    • Indexing before alignment
    • Read alignment: approximate matching
    • Global and local alignment
  • NGS DATA ANALYSIS & FUNCTIONAL GENOMICS
    • Experimental Techniques
      • Polymerase Chain Reaction
      • Sanger (first generation) Sequencing Technologies
      • Next (second) Generation Sequencing technologies
      • The third generation of sequencing technologies
    • The Linux Command-line
      • Connecting to the Server
      • The Linux Command-Line For Beginners
      • The Bash Terminal
    • File formats, alignment, and genomic features
      • FASTA & FASTQ file formats
      • Basic Unix Commands for Genomics
      • Sequences and Genomic Features Part 1
      • Sequences and Genomic Features Part 2: SAMtools
      • Sequences and Genomic Features Part 3: BEDtools
    • Genetic variations & variant calling
      • Genomic Variations
      • Alignment and variant detection: Practical
      • Integrative Genomics Viewer
      • Variant Calling with GATK
    • RNA Sequencing & Gene expression
      • Gene expression and how we measure it
      • Gene expression quantification and normalization
      • Explorative analysis of gene expression
      • Differential expression analysis with DESeq2
      • Functional enrichment analysis
    • Single-cell Sequencing and Data Analysis
      • scRNA-seq Data Analysis Workflow
      • scRNA-seq Data Visualization Methods
  • FINAL REMARKS
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  1. NGS DATA ANALYSIS & FUNCTIONAL GENOMICS
  2. Genetic variations & variant calling

Genomic Variations

PreviousGenetic variations & variant callingNextAlignment and variant detection: Practical

Last updated 5 months ago

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Genomic variations are differences in the DNA sequence between individuals within a species. There are several different types of genomic variations, including single nucleotide polymorphisms (SNPs), insertions and deletions, copy number variations (CNVs), and structural variations.

SNPs are the most common type of genomic variation, and they occur when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. These variations can have a range of effects, from having no impact on an organism's characteristics to causing significant changes.

Insertions and deletions are changes in the DNA sequence that involve the addition or removal of nucleotides. These variations can be small, involving just a few nucleotides, or large, involving thousands of nucleotides.

Copy number variations (CNVs) are changes in the number of copies of a particular section of DNA. These variations can have a range of effects, from having no impact on an organism's characteristics to causing significant changes.

Structural variations are changes in the structure of the DNA molecule itself. These variations can involve the rearrangement of large sections of DNA, and they can have a range of effects, from having no impact on an organism's characteristics to causing significant changes.

Overall, genomic variations are an important source of diversity within a species, and they can have a range of effects on an organism's characteristics and behavior.

Read the following chapter to gain a general understanding of the use of variant identification and analysis in bioinformatics and genomics.

Variant identification and analysisHuman genetic variation
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