Perla Bandini: Whole-Exome Sequencing Unveils Suspected Primary Hemostasis Disorders
Perla Bandini, Predoctoral Researcher at Blood and Tissue Bank, Barcelona, shared on LinkedIn:
”We are proud to share that the Congenital Coagulopathy Laboratory has published a new article in Thrombosis and Haemostasis: ‘Unveiling the Genetic Landscape of Inherited Primary Hemostasis Disorders by Whole-Exome Sequencing: Insights from a Multicenter Study.’
This publication represents the culmination of several years of collaborative work involving 17 Spanish hospitals.
In this study, we present the results of applying whole-exome sequencing to a large cohort of patients with suspected primary hemostasis disorders.
We aimed to better understand the complex and heterogeneous genetic landscape underlying these conditions, improving diagnostic yield and contributing to more precise clinical management.
Importantly, apart from inherited platelet disorders, our cohort study also includes patients with heritable disorders of connective tissue (HDCT) and with bleeding disorders of unknown cause (BDUC).
We are especially proud of the strong collaborative effort behind this work; clinicians, laboratory professionals, and researchers working together across institutions with a shared goal: improving the diagnosis and care of patients with inherited bleeding disorders of primary hemostasis.
A sincere thank you to all collaborators and patients who made this possible.”
Title: Unveiling the Genetic Landscape of Inherited Primary Hemostasis Disorders by Whole-Exome Sequencing: Insights from a Multicenter Study
Authors: Perla Bandini, Nina Borràs, Laura Martin-Fernandez, Noelia Vilalta, Marina Carrasco, Jose Mateo, Olga Benítez, Rubén Berrueco, Susanna Gassiot, Jose M. Bastida, Nazly Santos, Ramón Salinas, Rosa M. Acevedo, Reyes Aguinaco, Eugenia Fernandez-Mellid, Laura López-Andreoni, Olga Ramón, Francisco J. Lucas, Laura Quintana París, César Velasquez Escandón, Albert Tugues, Shally Marcellini, Eva Alonso, Rafael Parra, Iris Garcia-Martínez, Carlos Hobeich, Noemí González, Carina Lera, Natàlia Comes, Lorena Ramírez, Francisco Vidal, Irene Corrales
Read the Full Article on Thrombosis and Haemostasis
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