TY - JOUR
T1 - Introduction to the analysis of next generation sequencing data and its application to venous thromboembolism
AU - Cunha, Marisa L. R.
AU - Meijers, Joost C. M.
AU - Middeldorp, Saskia
PY - 2015
Y1 - 2015
N2 - 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
AB - 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
U2 - https://doi.org/10.1160/TH15-05-0411
DO - https://doi.org/10.1160/TH15-05-0411
M3 - Article
C2 - 26446408
SN - 0340-6245
VL - 114
SP - 920
EP - 932
JO - Thrombosis and haemostasis
JF - Thrombosis and haemostasis
IS - 5
ER -