A whole genome approach to platelet and bleeding disorders

Hämostaseologie
Michael A Laffan, BRIDGE Bleeding and Platelet Disorders Consortium

Abstract

The sequencing of hundreds of thousands of human exomes and hundreds of thousands of whole genomes is providing a progressively accurate and complete catalogue of human genetic variation. The initial studies to use genome wide data to help understand platelet disorders performed genome wide association studies to identify loci linked to variations in blood cell parameters. These studies used normal variation to find corresponding genetic variation. We next wished to investigate the genetic basis of bleeding disorders which may also provide a key to novel genes regulating platelet and haemostatic functions. The BRIDGE consortium (www.bridgestudy.org) is funded by the NIHR and brings together 13 rare disease gene discovery projects. The aim of these projects is to investigate as yet undiagnosed rare inherited diseases and identify the underlying mutational basis. We have used a cluster analysis based on the Human Phenotype Ontology in combination with next generation sequencing techniques to help identify patients with similar phenotypes which we hypothesise will arise from defects in the same gene. Preliminary results validate the clustering approach and have also resulted in a number of novel genes important for normal and path...Continue Reading

References

Jul 24, 2007·Indian Journal of Dermatology, Venereology and Leprology·S Amladi
Dec 27, 2008·American Journal of Human Genetics·Christa MeisingerAngela Döring
Jul 19, 2011·Nature Genetics·Cornelis A AlbersWillem H Ouwehand
Jul 19, 2011·Nature Genetics·Walter H A KahrJorge Di Paola
Apr 9, 2013·Nature Genetics·Ana CvejicCornelis A Albers
Apr 23, 2013·Current Opinion in Genetics & Development·Cornelis A AlbersCedric Ghevaert
Jan 16, 2014·European Journal of Human Genetics : EJHG·Jane KayeUNKNOWN UK 10K
Jan 1, 2013·Rare Diseases·Carsten DeppermannDavid Stegner

❮ Previous
Next ❯

Citations

Dec 19, 2018·Journal of Thrombosis and Haemostasis : JTH·D Mezzano, T Quiroga

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.