Eleonora Gaetani and Team Map Global Prevalence of HHT Using Population Genomics
Gemelli Computational Biology and Bioinformatics Lab shared on LinkedIn:
”In a new study published by Journal of Thrombosis and Haemostasis (JTH), we applied a computational, population-scale genomics approach to re-estimate the genetic prevalence of Hereditary Hemorrhagic Telangiectasia (HHT).
We have systematically analyzed known and potentially (according to HHT-specific ACMG/AMP criteria) pathogenic variants in ENG and ACVRL1 across three large genomic resources (gnomAD, All of Us, and Regeneron Genetics Center–Million Exome) and found that the genetic prevalence of HHT is substantially higher than current clinical estimates, thereby highlighting how large-scale variant aggregation and standardized pathogenicity frameworks can uncover underrecognized rare disease burden.
Work by Eleonora Gaetani, Agnese Giovannetti, Luigi Di Martino, Niccolò Liorni, Viviana Caputo, Antonio Gasbarrini, Roberto Pola, Tommaso Mazza at Agostino Gemelli University Hospital Foundation IRCCS”
Title: Global Prevalence of Hereditary Hemorrhagic Telangiectasia-Associated Variants Estimated by Analysis of Large-Scale Genomic Databases
Authors: Eleonora Gaetani, Agnese Giovannetti, Luigi Di Martino, Niccolò Liorni, Viviana Caputo, Antonio Gasbarrini, Roberto Pola, Tommaso Mazza
Read the Full Article on Journal of Thrombosis and Haemostasis (JTH)
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