Related Experiment Video

Updated: Jul 6, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

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

Published on: January 9, 2020

19.0K

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Kelley M Faber

    Medrxiv : the Preprint Server for Health Sciences
    |January 10, 2024
    PubMed
    Abstract

    More Related Videos

    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

    33.8K
    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    13.7K

    Related Concept Videos

    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...
    13.4K
    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%...
    17.7K
    Alternative RNA Splicing02:18

    Alternative RNA Splicing

    Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
    There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
    21.2K
    Alzheimer's Disease: Overview01:26

    Alzheimer's Disease: Overview

    Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
    The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
    490
    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,...
    15.1K