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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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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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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.
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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.
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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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A SNP panel for identity and kinship testing using massive parallel sequencing.

Ida Grandell1, Raed Samara2, Andreas O Tillmar3,4

  • 1Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Artillerigatan 12, SE-58758, Linköping, Sweden.

International Journal of Legal Medicine
|March 3, 2016
PubMed
Summary
This summary is machine-generated.

This study introduces a new massive parallel sequencing (MPS) assay for forensic genetics, enhancing DNA marker typing for identity testing and kinship analysis. The assay shows reproducible results, even with low DNA input, offering a streamlined workflow for forensic casework.

Keywords:
Forensic geneticsHuman identificationKinshipNext generation sequencingSingle-nucleotide polymorphism

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Area of Science:

  • Forensic Genetics
  • Molecular Biology
  • Genomics

Background:

  • Current capillary electrophoresis (CE) methods have limited DNA marker multiplexing capability.
  • Enhanced DNA marker typing is crucial for improving case resolution in forensic genetics.
  • Massive parallel sequencing (MPS) technology offers increased multiplexing potential.

Purpose of the Study:

  • To design and evaluate a customized MPS-based assay for forensic DNA analysis.
  • To increase the power of discrimination for identity testing and complex kinship issues.
  • To establish genotype frequencies for a Swedish population using the novel assay.

Main Methods:

  • A customized GeneRead DNASeq SNP panel with 140 autosomal SNPs was designed.
  • Single amplification and library preparation using GeneRead workflow.
  • Sequencing on MiSeq System (Illumina) and bioinformatic analysis using CLC Bio software.

Main Results:

  • The assay demonstrated balanced locus coverage and high heterozygous balance (<0.5% outliers).
  • Reproducible results were obtained with DNA input as low as 0.2 ng.
  • Promising results were observed for FTA and bone samples, indicating potential for challenging forensic samples.

Conclusions:

  • The developed MPS assay provides a straightforward sample-to-genotype workflow.
  • This assay can significantly aid forensic casework by enhancing identity testing and resolving complex kinship issues.
  • Further research is needed to optimize performance for degraded and PCR-inhibited forensic samples.