Fig 2. Overview of all filter strategies applied to the whole exome sequencing data derived from the DNA of 10 affected individuals from 2 Dutch families with inherited VTE (5 from each family).

Three filter strategies were applied to the sequencing data. These strategies were based on: variants within candidate genes (filter strategy 1), rare variants across the exome (filter strategy 2) and, SNPs present in patients with familial VTE and rare in the general population, i.e., associated with VTE (filter strategy 3). Together, all these strategies might increase the chances of finding the genetic risk factor for VTE present in family D and family K. Abbreviations: SNPs, single nucleotide variants/polymorphisms; INDELs, insertions and deletions; MAF, minor allele frequency; GoNL, Genome of the Netherlands project database, 498 unrelated Dutch individuals; EVS_EA, NHLBI Exome Sequencing Project database, 4,300 European-American unrelated individuals; 1000G, 1000 Genomes Project, 2,500 individuals from about 25 populations around the world; GIFT, Genetics In Familial Thrombosis study, 96 unrelated VTE cases with positive family history of VTE; MEGA, Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis study, up to 4,291 cases with VTE and 4,866 controls.