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Related Concept Videos

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...

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Related Experiment Video

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Detection and quantification of rare mutations with massively parallel sequencing.

Isaac Kinde1, Jian Wu, Nick Papadopoulos

  • 1The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.

Proceedings of the National Academy of Sciences of the United States of America
|May 19, 2011
PubMed
Summary

Identifying rare mutations is crucial for biomedical research. The Safe-Sequencing System (Safe-SeqS) enhances sequencing sensitivity by using unique identifiers and redundant sequencing to accurately detect low-frequency DNA variants.

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Last Updated: Jun 1, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

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Published on: October 18, 2013

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Published on: August 3, 2018

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Area of Science:

  • Genomics
  • Molecular Biology
  • Biomedical Research

Background:

  • Accurate identification of rare DNA mutations is vital for biomedical advancements.
  • High error rates in standard massively parallel sequencing limit the detection of low-frequency variants.

Purpose of the Study:

  • To develop a method that significantly improves the sensitivity of massively parallel sequencing for rare variant detection.
  • To introduce the Safe-Sequencing System (Safe-SeqS) for enhanced mutation identification.

Main Methods:

  • Assigning a unique identifier (UID) to each DNA template molecule.
  • Amplifying each UID-tagged molecule to form UID families.
  • Performing redundant sequencing on amplification products to validate mutations.

Main Results:

  • The Safe-Sequencing System (Safe-SeqS) substantially increases sensitivity for detecting rare DNA variants.
  • Demonstrated utility in assessing polymerase fidelity and oligonucleotide synthesis accuracy.
  • Evaluated the prevalence of mutations in nuclear and mitochondrial genomes of normal cells.

Conclusions:

  • Safe-SeqS enables confident identification of rare mutations by minimizing sequencing errors.
  • This approach is valuable for various applications, including genomic stability studies and diagnostics.
  • The system provides a robust tool for advancing research in mutation detection and genomic analysis.