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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,...
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...
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%...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Pedigree Analysis01:35

Pedigree Analysis

Overview

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Related Experiment Video

Updated: May 25, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

[A study on paternity testing with 96 autosomal SNPs].

Li Lee1, Li Wang, Qing-chuan Feng

  • 1Department of Obstetrics and Gynecology, Central Hospital of Zhengzhou, Zhengzhou, Henan 450007, P. R. China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|February 8, 2012
PubMed
Summary

Single nucleotide polymorphisms (SNPs) show potential for parentage testing, though paternity exclusion values are lower than short tandem repeats (STRs). Careful methodology is crucial to minimize errors in SNP-based paternity analysis.

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Last Updated: May 25, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Area of Science:

  • Genetics
  • Forensic Science

Context:

  • Autosomal single nucleotide polymorphisms (SNPs) offer a high-throughput genotyping approach.
  • Parentage testing traditionally relies on short tandem repeats (STRs).

Purpose:

  • To evaluate the feasibility of using autosomal single nucleotide polymorphisms (SNPs) for parentage testing.
  • To compare the efficacy of SNPs against established STR markers.

Summary:

  • Ninety-six selected SNPs with minor allele frequency (MAF) ≥ 0.30 and no linkage disequilibrium were integrated into bead arrays.
  • Testing on three father-child-mother trios revealed discrepancies with Mendelian laws for some SNPs and STRs.
  • Cumulative paternity index (CPI) calculations showed lower values for SNPs compared to STRs, particularly in cases with Mendelian inconsistencies.

Impact:

  • SNP-based parentage testing may yield lower paternity exclusion (PE) values than STRs.
  • The study highlights the need for stringent quality control and accurate methodologies to mitigate artificial errors in SNP-based paternity testing.
  • Further research is warranted to optimize SNP selection and analytical pipelines for reliable parentage determination.