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Related Experiment Video

Updated: Jul 18, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

S Pajusalu1,2, T Kahre1,2, H Roomere1

  • 1Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Clinical Genetics
|April 6, 2017
PubMed
Summary

Large gene panel sequencing shows significant diagnostic utility, especially for targeted gene sets. This high-throughput sequencing method aids in identifying pathogenic findings for various genetic conditions.

Keywords:
DNA copy number variationsclinical genetic diagnosticshigh-throughput nucleotide sequencinglarge gene panel sequencingwhole exome sequencing

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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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Last Updated: Jul 18, 2026

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Published on: September 20, 2016

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

Published on: April 4, 2018

Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Molecular Biology

Background:

  • Large gene panels are increasingly used for high-throughput sequencing in clinical settings.
  • The clinical utility of these large gene panels remains less investigated compared to whole exome sequencing.

Purpose of the Study:

  • To investigate the clinical utility of large gene panel sequencing.
  • To assess the diagnostic yield of targeted gene panels versus broader panels.

Main Methods:

  • Sequencing of the TruSight One panel (Illumina) in 501 unselected cases.
  • Analysis focused on virtual subpanels based on clinician-specified genes or predefined larger panels.

Main Results:

  • A pathogenic finding was reported in 26.3% of cases.
  • Targeted analysis of 1-9 genes yielded a significantly higher diagnostic rate (31.5%) compared to larger panels (21.7%).
  • Detected mutations included single nucleotide variants, insertions/deletions, and copy number variants, with 67 previously undescribed mutations.

Conclusions:

  • Large gene panel sequencing demonstrates significant clinical utility.
  • The diagnostic yield is influenced by the number of genes analyzed, with smaller, targeted panels showing higher efficiency.