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Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.

Peter L Nagy¹, Howard J Worman²

¹MNG Laboratories, Atlanta, GA, USA. plnagy@mnglabs.com.

Methods in Molecular Biology (Clifton, N.J.)

|August 25, 2018

Summary

This summary is machine-generated.

Next-generation sequencing (NGS) enables comprehensive analysis of genetic variants, including those affecting the LINC complex and causing disease. This review details NGS methods, data analysis, and common challenges for researchers.

Keywords:

DNA sequence analysis DNA sequencing LINC complex Mutation Next-generation sequencing Polymorphism Sequence variants

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Next-generation sequencing (NGS) provides high-throughput DNA analysis for investigating molecular systems like the LINC complex.
Identifying genetic variants linked to human diseases is a key application, particularly for genes encoding LINC complex proteins.

Purpose of the Study:

To provide a comprehensive overview of essential next-generation sequencing (NGS) materials and methods.
To guide researchers through the complexities of NGS data analysis and interpretation.
To highlight potential challenges and pitfalls in laboratory techniques and data processing pipelines.

Main Methods:

Targeted panel sequencing
Whole exome sequencing (WES)
Whole genome sequencing (WGS)

Main Results:

NGS technologies facilitate extensive investigation of genetic variations.
Analysis of large datasets generated by NGS requires specialized bioinformatics approaches.
Understanding methodological and analytical nuances is crucial for accurate variant interpretation.

Conclusions:

NGS is a powerful tool for disease gene discovery, including genes within the LINC complex.
Effective interpretation of NGS data requires familiarity with both wet-lab and dry-lab procedures.
This review aims to demystify NGS processes for broader accessibility in genetic research.