Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

Marisa L R CunhaJoost C M MeijersFrits R RosendaalAstrid van Hylckama VliegPieter H ReitsmaSaskia Middeldorp

Published in: PloS one (2017)

Despite sequencing of several individuals from two thrombophilic families resulting in 6 candidate variants, we were unable to confirm their relevance as novel thrombophilic defects.

Keyphrases

venous thromboembolism
copy number
direct oral anticoagulants
single cell
genome wide
dna methylation
atrial fibrillation