Dataset

Recurrent somatic JAK-STAT mutations within a RUNX1-mutated pedigree

Dataset ID Technology Samples
EGAD00001002240 Illumina HiSeq 2000 6

Dataset Description

Whole-exome sequencing of a RUNX1-mutated pedigree, including samples from mother, father and four offsprings. Recurrent somatic JAK-STAT mutations were found among the diseased individuals.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Familial RUNX1-mutated pedigree project - DAC
Contact person: Csaba bodor
Email: bodor [dot] csaba1 [at] med [dot] semmelweis-univ [dot] hu
More details: EGAC00001000496

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