Myelodysplastic Syndrome Exome Sequnecing

Study ID Alternative Stable ID Type
EGAS00001000089 Other

Study Description

Cancer is driven by mutation. Illumina GA massively parallel sequencing technology will be applied to Agilent exome hybridisation capture libraries and total genomic paired-end libraries. Bespoke algorithms are being developed to identify the somatically acquired structural variants, point mutations, insertions and deletions in these samples. This project will give unprecedented insights into mutational processes, cellular repair pathways and gene networks associated with Myelodysplastic Syndrome development.

Study Datasets 3 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
Somatic mutation of SF3B1 in myelodysplasia with ring sideroblasts and other cancers
Illumina Genome Analyzer II,Illumina HiSeq 2000 33
Myelodysplastic Syndrome Exome Sequencing
Illumina Genome Analyzer II,Illumina HiSeq 2000 152
Agilent whole exome hybridisation capture was performed on genomic DNA derived from MDS and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to discover the prevalence of our findings using bespoke pulldown methods and sequencing the products from a larger set of patient DNA.
Illumina HiSeq 2000 764

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