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Related Concept Videos

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,...
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%...
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...
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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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

SNP discovery and genotyping for evolutionary genetics using RAD sequencing.

Paul D Etter1, Susan Bassham, Paul A Hohenlohe

  • 1Institute of Molecular Biology, University of Oregon, Eugene, OR, USA.

Methods in Molecular Biology (Clifton, N.J.)
|November 9, 2011
PubMed
Summary
This summary is machine-generated.

Restriction site Associated DNA (RAD) genotyping uses next-generation sequencing to discover and score millions of single-nucleotide polymorphism (SNP) markers. This method enables large-scale genetic analysis in evolutionary biology, even for organisms with limited genomic resources.

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Area of Science:

  • Evolutionary Biology
  • Genomics

Background:

  • Next-generation sequencing (NGS) technologies are transforming evolutionary biology research.
  • NGS enables genetic analysis at unprecedented scales, including population genetics, quantitative trait mapping, comparative genomics, and phylogeography.
  • These advances are particularly impactful for organisms with limited existing genomic resources.

Purpose of the Study:

  • To introduce Restriction site Associated DNA (RAD) genotyping as a method for accelerating evolutionary genetics research.
  • To describe the core RAD-seq protocol and its adaptability for various evolutionary genetic questions.
  • To discuss bioinformatic considerations and analytical approaches for RAD-seq data.

Main Methods:

  • Development of Restriction site Associated DNA (RAD) genotyping.
  • Utilizing Illumina next-generation sequencing.
  • Simultaneous discovery and scoring of tens to hundreds of thousands of single-nucleotide polymorphism (SNP) markers in hundreds of individuals.

Main Results:

  • RAD genotyping provides a cost-effective method for large-scale SNP discovery and genotyping.
  • The method is applicable to a wide range of evolutionary genetic studies.
  • The protocol is adaptable for diverse research questions and organisms.

Conclusions:

  • RAD genotyping significantly advances the potential for genetic analysis in evolutionary biology.
  • Further development of analytical tools is needed to fully address sampling variance and biases in RAD-seq data.
  • This method facilitates high-throughput genetic studies, even in non-model organisms.