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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
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...
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%...
Sanger Sequencing01:57

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...
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
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,...

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Updated: Jun 27, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Variant Allele Characterization in STR Markers Using Next-Generation Sequencing.

Lauren E Mullen1, Carolyn R Steffen1, Katherine B Gettings1

  • 1National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA.

Genes
|June 26, 2026
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) offers a faster, more comprehensive method for analyzing short tandem repeat (STR) loci in forensic science. This approach enhances the characterization of genetic variations, improving human identification accuracy.

Keywords:
Sanger sequencingnext-generation sequencingnull alleleoff-ladder allelevariant allele

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Related Experiment Videos

Last Updated: Jun 27, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Forensic Genetics
  • Molecular Biology
  • Genomics

Background:

  • Traditional Sanger sequencing is time-intensive for characterizing reference materials and discordant short tandem repeat (STR) allele calls.
  • Sanger sequencing can identify genomic variations within STR amplicons, including null alleles and variants outside standard sizing bins.
  • Limitations of Sanger methods include low throughput and complex analysis of heterozygous alleles.

Purpose of the Study:

  • To develop a quicker and more straightforward protocol for STR analysis using next-generation sequencing (NGS).
  • To enhance the characterization of genetic variations within STR loci and flanking regions.
  • To provide a method for obtaining and sharing detailed molecular information on variant alleles within the forensic community.

Main Methods:

  • Development of a next-generation sequencing (NGS) protocol for analyzing thirty-five autosomal STR loci.
  • Strategic selection of PCR primer locations to increase amplicon length and detect flanking region variants.
  • Detailed criteria, targeted sequences, primers, and chromosomal coordinates for individual STR locus sequencing are provided.

Main Results:

  • The developed NGS protocol enables individual sequencing of thirty-five autosomal STR loci.
  • Primer design maximizes amplicon length for enhanced detection of variants in flanking STR regions.
  • The study provides comprehensive data including targeted sequences, primers, and chromosomal coordinates.

Conclusions:

  • NGS technology applied to forensic samples provides valuable molecular information on variant alleles.
  • This information can be published and shared, advancing forensic science knowledge.
  • Integration of NGS protocols into forensic laboratories can significantly improve DNA typing for human identification.