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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Comparing Copy Number Variations and SNPs02:26

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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%...
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Genetic Variation01:25

Genetic Variation

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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,...
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Related Experiment Video

Updated: Feb 25, 2026

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
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Mining sequence variations in representative polyploid sugarcane germplasm accessions.

Xiping Yang1, Jian Song1, Qian You1

  • 1Department of Agronomy, University of Florida, Gainesville, FL, 32610, USA.

BMC Genomics
|August 11, 2017
PubMed
Summary
This summary is machine-generated.

Genotyping by sequencing (GBS) effectively identified numerous genetic variations, including SNPs and InDels, in complex sugarcane genomes. This method aids in understanding sugarcane

Keywords:
Genotyping by sequencing (GBS)PolyploidSaccharum ComplexSequence divergenceSequence featuresSequence variationsSugarcane

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Area of Science:

  • Plant Genomics
  • Agricultural Biotechnology
  • Bioinformatics

Background:

  • Sugarcane (Saccharum spp.) is vital for sugar and biofuel production.
  • Its complex, polyploid genome poses challenges for studying genetic variations.
  • Understanding these variations is crucial for improving agronomic traits.

Purpose of the Study:

  • To establish and evaluate genotyping by sequencing (GBS) analysis pipelines for high-throughput genotyping in sugarcane.
  • To discover and characterize genomic sequence variations in the Saccharum complex.
  • To investigate the phylogenetic relationships among Saccharum accessions using discovered variations.

Main Methods:

  • Genotyping by sequencing (GBS) was employed on 14 representative Saccharum complex accessions.
  • GBS pipelines were optimized by evaluating alignment methods, variant callers, and sequence depth for SNP filtering.
  • Next-generation sequencing (NGS) and restriction enzyme-based genome complexity reduction were utilized.

Main Results:

  • A total of 76,251 non-redundant SNPs, 5642 InDels, 6380 PAVs, and 826 CNVs were detected.
  • De novo SNP calling identified 34,353 (universal network enabled analysis kit) and 109,043 (Stacks) SNPs.
  • Phylogenetic analysis revealed divergence times, with Saccharum species separating 0.19–1.65 million years ago.

Conclusions:

  • Genotyping by sequencing (GBS) is an effective NGS-based method for discovering genomic variations in polyploid species.
  • Recommended GBS pipelines and parameters are provided for the Saccharum complex and related species.
  • The study identified substantial genomic variations and elucidated evolutionary divergence within the Saccharum complex.