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Related Concept Videos

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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Related Experiment Video

Updated: Nov 1, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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[Next generation sequencing in histopathology : Applications and methodological challenges].

Ulrich Lehmann1, Andreas Jung2

  • 1Institut für Pathologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland. Lehmann.Ulrich@MH-Hannover.de.

Der Pathologe
|June 25, 2021
PubMed
Summary

Next-generation sequencing advances diagnostics by identifying genomic aberrations like mutations and fusion transcripts. Challenges remain in preanalytics and specialized data curation for routine molecular diagnostics.

Keywords:
DNA modificationsGene amplificationHigh-throughput nucleotide sequencingMutation signaturesmRNA expression patterns

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Area of Science:

  • Genomics
  • Molecular Diagnostics
  • Histopathology

Background:

  • Next-generation sequencing (NGS) technologies have dramatically increased sequencing capacity.
  • This expansion offers new opportunities in histopathology, research, and diagnostics.
  • However, these advancements also present significant challenges in data interpretation and application.

Purpose of the Study:

  • To review the expanding applications of genomic aberration identification in molecular diagnostics.
  • To highlight the challenges associated with implementing these advanced techniques.
  • To discuss the need for specialized expertise in genomic data curation.

Main Methods:

  • Review of current and emerging applications of genomic analysis in diagnostics.
  • Discussion of challenges in preanalytical procedures and assay validation.
  • Exploration of the requirements for specialized personnel in genomic data interpretation.

Main Results:

  • Genomic aberrations such as point mutations, insertions/deletions, fusion transcripts, and tumor mutation burden (TMB) are established in routine diagnostics.
  • Future applications include gene amplifications, microsatellite instability, homologous recombination deficiency (HRD), mRNA expression, clonality, and DNA methylation.
  • Significant challenges exist in preanalytics, assay sensitivity/specificity evaluation, and aberration curation.

Conclusions:

  • NGS technologies are transforming molecular diagnostics with a growing range of detectable genomic features.
  • Addressing preanalytical and analytical challenges is crucial for reliable implementation.
  • A new class of specialists is required for the proper curation and interpretation of complex genomic data.