Characterizing Individual Cells Obtained from Bone Marrow Biopsies of MPN Patients

JAK2-mutant myeloproliferative neoplasm (MPN) patients (3 polycythemia vera and 4 essential thrombocythemia patients), and 2 healthy controls. The submitted data corresponds to sequencing reads mapped to the human reference genome GhRC38 build using CellRanger for a total of 9 samples (one per patient).

In addition, to reconstruct the lineage histories of single cells in MPN patients, we performed whole-genome sequencing of single-cell-derived colonies of hematopoietic stem and progenitor cells from 2 essential thrombocythemia (ET) patients: 22 JAK2-mutant colonies and 20 WT colonies for patient ET 1; and 13 JAK2-mutant colonies and 21 WT colonies for patient ET 2. The submitted data consists of sequencing reads aligned to the human reference genome GhRC38 build using bwa-mem. Each file corresponds to the whole-genome sequencing data for one colony.
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Prospective MPN patients were identified through manual chart review of new outpatient clinic consults and clinician referral within our hospital network. Patients were required to have a confirmed diagnosis of PV or ET according to WHO criteria and next-generation sequencing (RapidHEME panel or SnapShot) documenting the presence of a missense variant at codon 617 of JAK2. Use of anti-platelet agents was permitted but disease-modifying treatments (e.g. hydroxyurea, interferon-alpha, ruxolitinib) were an exclusion criterion for the study. Consequently, our cohort consisted of newly diagnosed, treatment-naive JAK2-mutant MPN patients.]]>