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Updated: May 25, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation sequencing approaches for genetic mapping of complex diseases
Ferran Casals1, Youssef Idaghdour, Julie Hussin
1Centre de Recherche du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. ferrancasalslopez@gmail.com
Next-generation sequencing technologies offer new ways to study human diseases. This review covers key technologies and their applications in understanding the genetic causes of complex diseases.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Next-generation sequencing (NGS) has revolutionized biological research.
- Understanding the genetic basis of complex diseases remains a significant challenge.
Purpose of the Study:
- To review major next-generation sequencing technologies.
- To highlight their contributions and applications in studying the genetic etiology of complex human diseases.
Main Methods:
- Literature review of next-generation sequencing technologies.
- Analysis of applications in complex disease genetics.
Main Results:
- Overview of prominent NGS platforms.
- Discussion of NGS contributions to identifying genetic factors in complex diseases.
Conclusions:
- NGS technologies are crucial tools for dissecting the genetic underpinnings of complex diseases.
- Further application of NGS will advance our understanding of disease etiology.
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