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Related Experiment Video

Updated: Jul 13, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

A Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.

Bradley Hall1, Sawsan Alyafei2, Sathishkumar Ramaswamy2

  • 1Asuragen, A Bio-Techne Brand, Austin, Texas.

The Journal of Molecular Diagnostics : JMD
|March 30, 2025
PubMed
Summary

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A new PCR/Nanopore sequencing assay accurately identifies genetic variations for spinal muscular atrophy (SMA). This scalable and cost-effective method enhances SMA screening and diagnostic programs globally.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Spinal muscular atrophy (SMA) is a common genetic disorder with available treatments.
  • Accurate identification of all genetic variations is crucial for effective SMA screening and diagnosis.
  • High sequence homology between SMN1 and SMN2 genes complicates genetic analysis.

Purpose of the Study:

  • To develop and validate a scalable, cost-effective platform for SMA screening and diagnosis.
  • To overcome the challenge of SMN1/SMN2 gene homology in genetic testing.
  • To enable universal implementation of SMA testing, particularly in resource-limited settings.

Main Methods:

  • Development and optimization of a dual-mode PCR-based target-enrichment method.
  • Application of any-length nanopore sequencing for analyzing SMN1 and SMN2 gene amplicons (exons 3-8).

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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

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Last Updated: Jul 13, 2026

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Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Published on: November 5, 2019

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

  • Utilizing a variant calling model for sequence and copy number variant detection using paralog-specific sequences and read-depth data.

    • Main Results:

    • The assay achieved >98% genotype agreement across over 750 diverse samples.
    • Detected single-nucleotide variants, insertions/deletions, and copy number variants with high accuracy.
    • Demonstrated a 9-hour turnaround time, 4-hour hands-on time, and dynamic sample throughput.

    Conclusions:

    • The developed PCR/Nanopore sequencing assay is a proof-of-concept for scalable and deployable SMA genetic testing.
    • The assay's cost-effectiveness and accessibility support its potential for universal implementation in SMA programs.
    • This method can significantly improve access to SMA carrier screening and diagnostic testing, especially in low- and middle-income countries.