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Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: Jan 26, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

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Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.

Nabih Maslah^1,2, Emmanuelle Verger^1,2, Marie-Helene Schlageter^1,2

¹APHP, Laboratoire de Biologie Cellulaire, Hopital Saint-Louis, 1 avenue Claude Vellefaux, 75010, Paris, France.

Annals of Hematology

|September 28, 2018

Summary

Next-generation sequencing (NGS) shows high concordance with quantitative PCR (qPCR) for JAK2 mutations in myeloproliferative neoplasms (MPN). While less sensitive, NGS identifies novel JAK2 variants impacting disease.

Keywords:

Diagnosis JAK2 Mutation Myeloproliferative neoplasm Next-generation sequencing

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

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Published on: September 20, 2016

Area of Science:

Hematology
Molecular Diagnostics
Oncology

Background:

The JAK2^V617F mutation is a key diagnostic marker for myeloproliferative neoplasms (MPN).
Quantitative PCR (qPCR) is the standard laboratory method for JAK2 mutation detection.
Next-generation sequencing (NGS) offers comprehensive genomic analysis and requires evaluation for JAK2 testing.

Purpose of the Study:

To compare the performance of NGS with qPCR and HRM for JAK2 mutation detection in MPN patients.
To assess the concordance and quantitative correlation between NGS and conventional methods.
To explore the utility of NGS in identifying novel JAK2 variants.

Main Methods:

Analysis of 427 patient DNA samples using both qPCR and NGS for JAK2 mutations.
Evaluation of 40 samples for JAK2 exon 12 mutations using High-Resolution Melting (HRM) analysis.
Comparison of results, including allelic burden and variant identification.

Main Results:

Excellent concordance between NGS and qPCR for JAK2 mutations when allelic burden >2%.
NGS showed lower sensitivity than qPCR for low allelic burdens (0.1-1%).
100% concordance between NGS and HRM for JAK2 exon 12 mutations; NGS identified novel variants, including one activating mutation (c.1034A>T p.H345L).

Conclusions:

NGS is a robust and highly correlated alternative to qPCR for JAK2 mutation testing in MPN.
NGS offers broader detection capabilities, identifying previously unknown JAK2 variants with potential clinical significance.
NGS provides a comprehensive approach for diagnosing and understanding the molecular landscape of MPN.