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Related Concept Videos

Sanger Sequencing01:57

Sanger Sequencing

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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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Next-generation Sequencing03:00

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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.
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RNA-seq03:21

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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. 
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Evolutionary Relationships through Genome Comparisons02:54

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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...
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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.
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Updated: Nov 14, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Hila Fridman1,2, Concetta Bormans3, Moshe Einhorn4

  • 1Medical Genetics Institute, Shaare Zedek Medical Center, 91031, Jerusalem, Israel. hila.fridman@mail.huji.ac.il.

Molecular Genetics and Genomics : MGG
|March 11, 2021
PubMed
Summary
This summary is machine-generated.

Next generation sequencing (NGS) demonstrates high concordance with Sanger sequencing for clinical genetic testing. Both methods show false positives and negatives, emphasizing the need to consider clinical suspicion when interpreting results.

Keywords:
ComparisonNext generationPerformanceSangerSequencing

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Next-generation sequencing (NGS) is a routine clinical diagnostic tool.
  • Systematic performance comparisons between exome sequencing and Sanger sequencing are limited.
  • Performance data is crucial for effective clinical case management.

Purpose of the Study:

  • To compare the performance of exome sequencing using two enrichment kits against Sanger sequencing.
  • To evaluate concordance and accuracy for clinical genetic variant detection.

Main Methods:

  • Sanger sequencing of 258 genes (including flanking regions) was compared to NGS.
  • Two exome sequencing enrichment kits (Agilent SureSelectQXT and Illumina Nextera) were utilized.
  • Sequencing was performed on DNA from leukocytes and buccal cells, with multiple replicates.

Main Results:

  • NGS achieved high mean coverage (>20×) for over 98% (SureSelect) and 91% (Nextera) of targeted regions.
  • High concordance was observed, with 90.6% of variants detected by all experiments.
  • Sensitivity was 99% for Sanger and 97-100% for NGS; false-positive rates were comparable across methods.

Conclusions:

  • Next-generation sequencing (NGS) exhibits high concordance with Sanger sequencing for targeted gene analysis.
  • Both NGS and Sanger sequencing can produce false-positive and false-negative results.
  • Clinical suspicion should guide the interpretation of genetic test results, regardless of the method used.