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Genome Information for Homo sapiens
The pathogenesis of Essential Thrombocythemia (ET), a clonal disorder of the multipotential hematopoietic stem cell resulting in unusual increase in platelet production, is poorly understood at the molecular level.
More...The pathogenesis of Essential Thrombocythemia (ET), a clonal disorder of the multipotential hematopoietic stem cell resulting in unusual increase in platelet production, is poorly understood at the molecular level. With the emergence of high-throughput Next-Generation Sequencing (NGS) technology and platelet transcript handling approaches originally developed in our laboratory, a survey of mutation profiles in platelets of ET patients become feasible. Our hypothesis is that patients with ET bear disease mutations in their platelet transcripts - identifying these mutations will significantly increase our understanding of the ET pathogenesis and pave the way for the development of novel diagnostic and treatment regimes. The goal of this study is to identify ET specific mutation profiles by sequencing platelet transcriptome in patients with ET, compared with healthy individuals.
Less...| Accession | PRJNA289236 |
| Data Type | Genome sequencing |
| Scope | Monoisolate |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Grants | - "Uncover Genetic Modifiers of Abnormal Platelet Production" (Grant ID TRO/FUSION, Stony Brook University)
- "Shared Facilities for the Stony Brook Stem Cell Center" (Grant ID C026716, New York State Stem Cell Foundation)
- "Genomic Modifiers of Platelet Production" (Grant ID G175, National Heart, Lung and Blood Institute)
- "Genetic dissection of the platelet thrombohemorrhagic phenotype" (Grant ID R01 HL091939, National Heart, Lung and Blood Institute)
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| Submission | Registration date: 8-Jul-2015 Stony Brook Univeristy |
| Relevance | Medical |
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