A phenotype driven integrative framework uncovers molecular mechanisms of a rare hereditary thrombophilia.

ABSTRACT: Antithrombin resistance is a rare subtype of hereditary thrombophilia caused by prothrombin gene variants, leading to thrombotic disorders. Recently, the Prothrombin Belgrade variant has been reported as a specific variant that leads to antithrombin resistance in two Serbian families with thrombosis. However, due to clinical data scarcity and the inapplicability of traditional genome-wide association studies (GWAS), a broader perspective on molecular and phenotypic mechanisms associated with the Prothrombin Belgrade variant is yet to be uncovered. Here, we propose an integrative framework to address the lack of genomic samples and support the genomic signal from the full genome sequences of five heterozygous subjects by integrating it with subjects' phenotypes and the genes' molecular inte

SUBMITTER: Malod-Dognin N 

PROVIDER: S-EPMC10128975 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature