Shwachman-Diamond syndrome (SDS) Exome sequencing

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.

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Studies are experimental investigations of a particular phenomenon. e.g. case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients. Click on one of the Study IDs below to find out more.

Study ID Study Title Study Type
EGAS00001000264 Other
ID File Type Size Located in Quality Control
EGAF00000530678 cram 4.6 GB
EGAF00000530679 cram 6.5 GB
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