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Related Experiment Video

Updated: Aug 16, 2025

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Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.

Árpád Ferenc Kovács1, Zaránd Némethi1, Tünde Abonyi1

  • 12nd Department of Paediatrics, Semmelweis University, Üllői út 26, 1085 Budapest, Hungary.

Bioengineering (Basel, Switzerland)
|December 23, 2022
PubMed
Summary

Nanopore sequencing offers a novel approach to analyze genomic data at single-cell resolution, improving disease diagnosis. This technology aids in understanding complex genetic variations and genotype-phenotype correlations for targeted treatments.

Keywords:
actionable genetic diagnosiscomplex structural variantsgenetic counsellinglong-read sequencingnanopore sequencingsingle cells

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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Genetics

Background:

  • Current genomic sequencing methods often use a bulk approach, limiting the resolution of single-cell analysis.
  • This bulk approach leaves genomic heterogeneity, mosaicism, and complex structural variants partially uncharacterized.
  • Clinical diagnostics face challenges in deciphering disease-causing genomic sequences and understanding genotype-phenotype correlations.

Purpose of the Study:

  • To review the application of nanopore sequencing in clinical genomics.
  • To highlight the significance of genetic counseling in the context of advanced genomic analysis.
  • To propose a comprehensive approach for phenotype-driven molecular diagnosis.

Main Methods:

  • Review of current literature on nanopore sequencing in clinical genomics.
  • Discussion of the role of genetic counseling (pre- and post-test).
  • Conceptual framework for phenotype-driven molecular diagnosis.

Main Results:

  • Nanopore sequencing provides single-molecule, long-read, high-resolution data in real-time, including nucleic acid sequence and methylation.
  • Accurate interpretation of genotype-phenotype correlations is crucial, especially considering the interplay of multiple variants.
  • Inheritable disorders can exhibit phenotypic variability even within families.

Conclusions:

  • Nanopore sequencing holds promise for advancing clinical genomics by enabling detailed analysis of genomic data.
  • Integrating genetic counseling with advanced sequencing techniques can lead to a more effective phenotype-driven molecular diagnostic approach.
  • This integrated approach has the potential to reduce diagnostic timelines and facilitate actionable diagnoses and therapeutic interventions.