Article

Understanding the genetic basis of rare inherited bleeding and platelet disorders : the utility of next-generation sequencing

2018-01-01

Abstract excerpt

Inherited bleeding and platelet disorders (BPD) are rare, heterogeneous and rarely receive a specific genetic diagnosis. The BRIDGE-Bleeding and platelet disorders consortium was set up to address this using high-throughput sequencing (HTS). More than one thousand probands with inherited BPD of unknown aetiology were recruited to an international consortium study with two over-arching aims: to identify novel genet...

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Literature Corpus work: 0d394aa1-0c49-5bb1-8e6c-f57e1f0c1008
DOI: 10.25560/70178

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