Study

Exome Sequencing to Identify Causes of Leukaemia Predisposing Congenital Neutropenias

Study ID Alternative Stable ID Type
EGAS00001000100 Other

Study Description

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 using public databases and data from unaffected family members.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005264
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

Who archives the data?

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