Targeted Sequencing of Shwachman-Diamond syndrome bone marrow samples

Study ID Alternative Stable ID Type
EGAS00001004879 Other

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset includes amplicon based sequencing of myeloid malignancy associated genes as well as EIF6 in 99 patients with Shwachman-Diamond syndrome and 11 patients who are "SDS-like". SDS-like patients are those that have clinical features of the disease but do not have a confirmed disease-causing mutation. There are 421 samples from serial timepoints, denoted alphabetically or numerically. For each timepoint, there is a single BAM file.
HiSeq X Ten 421

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