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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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RNA-seq03:21

RNA-seq

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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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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Related Experiment Video

Updated: Mar 22, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Orthogonal NGS for High Throughput Clinical Diagnostics.

Niru Chennagiri1, Eric J White1, Alexander Frieden1

  • 1Claritas Genomics, Cambridge MA, USA.

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|April 20, 2016
PubMed
Summary
This summary is machine-generated.

Orthogonal next-generation sequencing (NGS) platforms improve genetic disorder diagnosis. Combining two sequencing methods enhances variant calling accuracy and speed, reducing the need for costly follow-up tests.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Next-generation sequencing (NGS) is crucial for genetic disorder discovery and diagnosis.
  • High-throughput sequencing technologies are prone to errors, requiring variant confirmation for clinical applications.

Purpose of the Study:

  • To develop an orthogonal, dual-platform approach for enhanced accuracy and speed in genomic variant calling.
  • To improve the reliability of genetic variant detection for clinical diagnostics.

Main Methods:

  • Combined bait-based hybridization (Illumina NextSeq) with amplification-based selection (Ion Proton).
  • Employed complementary target capture and sequencing chemistries for orthogonal confirmation.
  • Applied this dual-platform strategy at a genomic scale.

Main Results:

  • Achieved orthogonal confirmation of approximately 95% of exome variants.
  • Improved overall variant sensitivity by leveraging the complementary coverage of each method.
  • Demonstrated enhanced specificity for variants identified on both platforms.

Conclusions:

  • Orthogonal NGS using two platforms significantly improves variant calling sensitivity and specificity.
  • This approach reduces the time and cost associated with traditional Sanger sequencing follow-up.
  • Enables faster clinical decision-making based on reliable genomic results.