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.



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