Exome Sequencing to Identify Causes of Leukaemia Predisposing Congenital Neutropenias
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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The objective of this study is to identify the causative genes in two unrelated congenital neutropenia families. We aim to whole exome sequence the affected individuals, unaffected siblings and parents in both cases in an effort to idenitfy the causative genetic mutation. Exome capture will be performed using Agilent SureSelect system. Subsequently, exome libraries will sequenced using the Illumina HiSeq platform. Sequence variant calling will be done in house and common variants excluded ... (Show More)
|Illumina HiSeq 2000||8|