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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Genetic Variation01:25

Genetic Variation

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, which...

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[EDAS, databases of alternatively spliced human genes].

Biofizika·2006
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[How do point amino acid substitutions affect the protein structure?].

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[Use of multiple structural alignment for recognizing the type of protein spatial architecture].

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[Statistical analysis of correspondence between the primary and tertiary protein structure].

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Related Experiment Video

Updated: Jun 23, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

[Computational analysis of human genome polymorphism].

V E Ramenskiĭ, Sh R Siuniaev

    Molekuliarnaia Biologiia
    |May 12, 2009
    PubMed
    Summary

    Post-genome technologies focus on genetic information processing and human variation. PolyPhen predicts functional single nucleotide polymorphisms (SNPs) impacting complex diseases and traits.

    Area of Science:

    • Genomics and Bioinformatics
    • Human Genetics
    • Computational Biology

    Context:

    • The human genome sequence is established, shifting focus to functional genomics and variation.
    • Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation.
    • Non-synonymous coding SNPs (nsSNPs) and regulatory SNPs are key to understanding complex traits and diseases.

    Purpose:

    • To introduce PolyPhen, a computational tool for predicting the functional impact of nsSNPs.
    • To highlight the utility of nsSNP prediction in various genetic research areas.

    Summary:

    • PolyPhen analyzes nsSNPs to predict their potential functional consequences.
    • The tool aids in identifying genetic variations that may influence disease susceptibility, quantitative traits, and drug responses.

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    A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

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    Related Experiment Videos

    Last Updated: Jun 23, 2026

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

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  • It leverages computational approaches to interpret the functional significance of genetic polymorphisms.

    • Impact:

    • Facilitates research in complex disease genetics by prioritizing functionally relevant SNPs.
    • Supports the identification of mutations in model organisms for genetic studies.
    • Contributes to evolutionary genetics by analyzing the functional impact of variations across populations.