Related Experiment Video

Updated: Mar 12, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.8K

SLC22A2 - mapping genomic variations within South African indigenous and admixed populations

Brendon Pearce, Clifford Jacobs, Nisreen Hoosain

    Drug Metabolism and Personalized Therapy
    |November 10, 2016
    PubMed
    Abstract

    More Related Videos

    Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration04:41

    Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

    Published on: January 9, 2020

    19.5K
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

    Published on: April 4, 2018

    35.0K

    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%...
    19.0K
    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,...
    19.4K
    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,...
    1.5K
    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...
    70
    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...
    16.4K
    Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

    Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

    The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
    90