Targeted Deep Sequencing of Shwachman-Diamond syndrome bone marrow samples

Dr Akiko Shimamura
akiko.shimamura@childrens.harvard.edu

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Dataset ID	Description	Technology	Samples
EGAD00001006800	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