title: Introduction to the analysis of next generation sequencing data and its application to venous thromboembolism.
abstract: Despite knowledge of various inherited risk factors associated with venous thromboembolism (VTE), no definite cause can be found in about 50% of patients. The application of data-driven searches such as GWAS has not been able to identify genetic variants with implications for clinical care, and unexplained heritability remains. In the past years, the development of several so-called next generation sequencing (NGS) platforms is offering the possibility of generating fast, inexpensive and accurate genomic information. However, so far their application to VTE has been very limited. Here we review basic concepts of NGS data analysis and explore the application of NGS technology to VTE. We provide both computational and biological viewpoints to discuss potentials and challenges of NGS-based studies.
authors.affiliation: Marisa 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, E-mail: m.l.cunha@amc.uva.nl.
authors.forename: Marisa L R
authors.initials: ML
authors.lastname: Cunha
authors.forename: Joost C M
authors.initials: JC
authors.lastname: Meijers
authors.forename: Saskia
authors.initials: S
authors.lastname: Middeldorp
mesh_terms: D019295:Computational Biology; D004252:DNA Mutational Analysis / Q000379:methods*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D054556:Venous Thromboembolism / Q000175:diagnosis* / Q000235:genetics
keywords: Gene mutations; bioinformatics pipeline; inherited coagulation disorders; polymorphisms; venous thrombosis