Identification of Non-coding Genomic Regions Involved in the Etiology of Bleeding, Platelet, and Thrombotic Disorders

Luca Stefanucci, Ph.D.
University of Cambridge and Wellcome Trust Sanger Institute
Cambridge, United Kingdom

A large proportion of heritable bleeding, thrombotic and platelet disorders (BPD) remains without a molecular diagnosis. Part of the missing diagnoses may be because of noncoding variants in the gene-regulatory space. In this presentation, Luca Stefanucci, Ph.D., discusses his study identifying regulatory regions of the 93 diagnostic-grade BPD genes. BPD regulatory regions were determined using a modified version of the capture Hi-C approach. Possibly pathogenic rare variants were identified using these interaction maps. Finally, this study lays the foundation for using whole-genome-sequencing in unexplained BPD cases.

Previous Article An Integrative Approach to Diagnose Heparin-Induced Thrombocytopenia: Development, Validation, and Implementation of a Multivariable Prediction Model
Next Article Supercharged Platelets as a Novel Therapy for Reducing Blood Loss Post-Cardiac Surgery