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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%...
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...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Updated: Jul 5, 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

Fosmid libraries for genomic structural variation detection.

William F Donahue1, Heather M Ebling

  • 1Agencourt Bioscience, Beverly, Massachusetts, USA.

Current Protocols in Human Genetics
|April 23, 2008
PubMed
Summary
This summary is machine-generated.

This study details the construction of fosmid libraries, which are crucial for genome sequencing and structural variation analysis. These libraries provide a versatile tool for various genomic applications, aiding in gene discovery and structural variation detection.

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Last Updated: Jul 5, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Published on: June 23, 2012

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Fosmid libraries are valuable tools in genomics, bridging the gap between bacterial artificial chromosomes (BACs) and small insert libraries.
  • They are utilized for genome sequencing, hybridization studies to identify functional genomic elements, and structural variation analysis.

Purpose of the Study:

  • To outline basic methodologies for constructing fosmid libraries with precise insert sizes.
  • To provide protocols suitable for applications in genome sequencing and structural variation studies.

Main Methods:

  • Protocol 1: DNA shearing, size selection, and recovery from pulsed-field gel electrophoresis.
  • Protocol 2: Ligation of insert DNA into fosmid vectors, in vitro packaging into phage particles, and bacterial transformation.

Main Results:

  • Detailed protocols for generating fosmid libraries with controlled insert sizes.
  • A comprehensive guide covering critical parameters for successful fosmid library construction.

Conclusions:

  • The described methods enable the creation of high-quality fosmid libraries for diverse genomic applications.
  • These libraries are essential for advancing genome assembly, functional element isolation, and structural variation detection.