@article{Ben Johnson_Gillian C. Lowe_Jane Futterer_Marie Lordkipanidzé_David MacDonald_Michael A. Simpson_Isabel Sanchez-Guiú_Sian Drake_Danai Bem_Vincenzo Leo_Sarah J. Fletcher_Ban Dawood_José Rivera_David Allsup_Tina Biss_Paula HB Bolton-Maggs_Peter Collins_Nicola Curry_Charlotte Grimley_Beki James_Mike Makris_Jayashree Motwani_Sue Pavord_Katherine Talks_Jecko Thachil_Jonathan Wilde_Mike Williams_Paul Harrison_Paul Gissen_Stuart Mundell_Andrew Mumford_Martina E. Daly_Steve P. Watson_Neil V. Morgan_2016, place={Pavia, Italy}, title={Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects}, volume={101}, url={https://haematologica.org/article/view/7843}, DOI={10.3324/haematol.2016.146316}, abstractNote={Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, and more recently in the discovery of novel disease-causing genes. However its full potential has not yet been exploited. Over the past 6 years we have sequenced the exomes from 55 patients, including 37 index cases and 18 additional family members, all of whom were recruited to the UK Genotyping and Phenotyping of Platelets study. All patients had inherited or sustained thrombocytopenia of unknown etiology with platelet counts varying from 11×10<sup>9</sup>/L to 186×10<sup>9</sup&gt;/L. Of the 51 patients phenotypically tested, 37 (73%), had an additional secondary qualitative platelet defect. Using whole exome sequencing analysis we have identified “pathogenic” or “likely pathogenic” variants in 46% (17/37) of our index patients with thrombocytopenia. In addition, we report variants of uncertain significance in 12 index cases, including novel candidate genetic variants in previously unreported genes in four index cases. These results demonstrate that whole exome sequencing is an efficient method for elucidating potential pathogenic genetic variants in inherited thrombocytopenia. Whole exome sequencing also has the added benefit of discovering potentially pathogenic genetic variants for further study in novel genes not previously implicated in inherited thrombocytopenia.}, number={10}, journal={Haematologica}, author={Ben Johnson and Gillian C. Lowe and Jane Futterer and Marie Lordkipanidzé and David MacDonald and Michael A. Simpson and Isabel Sanchez-Guiú and Sian Drake and Danai Bem and Vincenzo Leo and Sarah J. Fletcher and Ban Dawood and José Rivera and David Allsup and Tina Biss and Paula HB Bolton-Maggs and Peter Collins and Nicola Curry and Charlotte Grimley and Beki James and Mike Makris and Jayashree Motwani and Sue Pavord and Katherine Talks and Jecko Thachil and Jonathan Wilde and Mike Williams and Paul Harrison and Paul Gissen and Stuart Mundell and Andrew Mumford and Martina E. Daly and Steve P. Watson and Neil V. Morgan}, year={2016}, month={Sep.}, pages={1170-1179} }