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

ABSTRACT:

Background

Family studies have shown a strong heritability component for venous thromboembolism (VTE), but established genetic risk factors are present in only half of VTE patients.

Aim

To identify genetic risk factors in two large families with unexplained hereditary VTE.

Methods

We performed whole exome sequencing in 10 affected relatives of two unrelated families with an unexplained tendency for VTE. We prioritized variants shared by all affected relatives from both families, and evaluated these in the remaining affected and unaffected individuals. We prioritized variants based on 3 different filter strategies: variants within candidate genes, rare variants across the exome, and SNPs present in patients with familial VTE and with low frequency in the general popula

SUBMITTER: Cunha MLR 

PROVIDER: S-EPMC5695603 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature