Identification of novel inherited risk factors for venous thrombosis using NGS

Historically, monogenetic disorders have greatly helped the unravelling of biological pathways following the identification of novel genes. Recently, important technological advances have given geneticists and biologists remarkable opportunities. While a few years ago small families with only a few affected individuals could not provide breakthroughs, this has changed dramatically over the past year, especially through exome sequencing. Following this road, state-of-the art technologies such as targeted capture of only the coding sequence of human genome (exome) and next generation sequencing will be applied to identify DNA variations in individuals from small sibships with venous thrombosis of unknown aetiology at a young age (the so-called GIFT study). The resulting rare and low frequency exonic genetic variants will be interrogated for their involvement in VTE using burden-testing approaches. Further replication of these candidate variants, in particular in the framework of recurrent VTE, can be performed on the samples from large case-control studies of venous thrombosis.