Study
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 |
|---|---|---|---|
| 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 |
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