Study

Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

Study ID Alternative Stable ID Type
EGAS00001004880 Exome Sequencing

Study Description

Study Datasets 1 dataset.

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
EGAD00001006815 This dataset includes paired WES from bone marrow samples of patients with SDS and paired bone marrow-derived fibroblasts as a germline reference. Some patients have multiple samples collected serially over time. There are 74 BAM files included in this dataset. AB 5500 Genetic Analyzer Illumina HiSeq 2500 74

Who archives the data?

Publications

Publications Citations
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Nat Commun 12:2021 1334
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