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Introduction to the analysis of next generation sequencing data and its application to venous thromboembolism

Marisa L R Cunha1, Joost C M Meijers, Saskia Middeldorp

  • 1Marisa L. R. Cunha, Department of Experimental Vascular Medicine, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands, Tel.: +31 20 5662824, Fax: +31 20 6968833,

Thrombosis and Haemostasis
|October 9, 2015
PubMed

Insights

Next-generation sequencing (NGS) offers a powerful approach to uncover the genetic underpinnings of venous thromboembolism (VTE). This review explores NGS

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Venous thromboembolism (VTE) has known inherited risk factors, yet a cause remains unidentified in approximately 50% of patients.
  • Genome-Wide Association Studies (GWAS) have not fully explained VTE heritability or identified clinically actionable genetic variants.
  • Unexplained heritability highlights the need for advanced genetic investigation methods in VTE research.

Purpose of the Study:

  • To review the fundamental concepts of next-generation sequencing (NGS) data analysis.
  • To explore the potential applications of NGS technology in the study of venous thromboembolism (VTE).
  • To discuss the computational and biological opportunities and challenges associated with NGS-based VTE research.

Main Methods:

  • Review of next-generation sequencing (NGS) principles and data analysis workflows.
  • Exploration of existing literature on NGS applications in thrombosis and hemostasis research.
  • Discussion of computational tools and biological interpretations relevant to NGS data in VTE.

Main Results:

  • NGS platforms provide fast, cost-effective, and accurate genomic information.
  • The application of NGS to VTE research has been limited but holds significant promise.
  • NGS can potentially identify novel genetic variants contributing to VTE risk.

Conclusions:

  • NGS technology presents a transformative opportunity to advance our understanding of VTE genetics.
  • Overcoming computational and biological challenges is crucial for successful NGS implementation in VTE studies.
  • Future NGS-based research could lead to improved VTE risk prediction and personalized medicine approaches.

Keywords:
Gene mutationsbioinformatics pipelineinherited coagulation disorderspolymorphismsvenous thrombosis

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