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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...
Heterochromatin02:38

Heterochromatin

The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at 9th...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...
Nucleosome Remodeling02:54

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...

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Related Experiment Video

Updated: Jul 4, 2026

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
13:55

Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization

Published on: February 3, 2013

Defining Pseudo-Haplotype Analysis Reveals Multi-Gene Genetic Pattern Across BAF Chromatin Remodeling Complexes.

Xiaowei Dong, Neshatul Haque, Jessica Wagenknecht

    Biorxiv : the Preprint Server for Biology
    |July 3, 2026
    PubMed
    Summary
    This summary is machine-generated.

    Most people carry genetic variations in BRG1-associated factor (BAF) genes, with many having multiple variants. This study introduces a new analysis to understand these complex BAF patterns and their disease implications.

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    Combined Immunofluorescence and DNA FISH on 3D-preserved Interphase Nuclei to Study Changes in 3D Nuclear Organization
    13:55

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    Published on: February 3, 2013

    A Novel Bayesian Change-point Algorithm for Genome-wide Analysis of Diverse ChIPseq Data Types
    12:39

    A Novel Bayesian Change-point Algorithm for Genome-wide Analysis of Diverse ChIPseq Data Types

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    Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
    22:27

    Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

    Published on: May 6, 2010

    Area of Science:

    • Genetics
    • Molecular Biology
    • Human Disease

    Background:

    • BRG1-associated factor (BAF) complexes are vital for chromatin remodeling.
    • Genetic variants in BAF genes are linked to cancers and developmental disorders.
    • Understanding BAF genetic diversity and variant co-occurrence is crucial but incomplete.

    Purpose of the Study:

    • To develop and apply a novel framework for analyzing combined genetic variations within BAF genes.
    • To quantify the prevalence of single and multiple variants in BAF genes within a cohort.
    • To identify co-occurrence patterns of BAF variants across global populations.

    Main Methods:

    • Introduced a pseudo-haplotype analysis (PHA) framework.
    • Combined multiple protein-coding sequence variants observed concurrently within individual samples.
    • Analyzed variant patterns in a cohort to assess prevalence and co-occurrence.

    Main Results:

    • 78.44% of BAF pseudo-haplotype copies carry at least one coding variation.
    • Over 56% of these contain at least two variants, and 32% contain three or more.
    • 25.30% of unique pseudo-haplotypes were observed only once, indicating rare combinations.

    Conclusions:

    • A significant burden of multi-variant BAF configurations exists within individuals.
    • Rare and private combinations of BAF variants are common.
    • Considering complete individual variant configurations and population genetics is essential for disease association studies and precision medicine.