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Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degeneration of both the peripheral and central nervous systems. FD is monogenic, with >99.4% of patients sharing an identical point mutation in the elongator acetyltransferase co...
2022-12-06 | MTBLS5138 | MetaboLights
LC-MS/MS proteomic profiling was performed on children with bacterial and viral infections using plasma samples. Protein biomarkers indiciative of bacterial or viral infection were identified.
ORGANISM(S): Homo sapiens (Human) 
2023-11-14 | PXD041960 | Pride
LC-MS/MS proteomic profiling was performed on children with bacterial and viral infections using plasma samples. Protein biomarkers indiciative of bacterial or viral infection were identified.
ORGANISM(S): Homo sapiens (Human) 
2023-11-14 | PXD042003 | Pride
single nucleotide variant calls from somatic sniper, vcf format. input for subclonal reconstruction
Aligned sequence data from 14 Prostate cancer samples with BRCA2 mutations
Raw Array data from the CPCGene BRCA study
single nucleotide variant calls from somatic sniper, vcf format
structural variant calls from Delly, vcf format
Germline mutation of BRCA2 increases the lifetime risk of developing prostate cancer (PCa) by over 700%. BRCA2-mutant PCa have poorer prognosis than sporadic PCa, with rapid development of metastatic, castrate-resistant prostate cancer (mCRPC) and 5-year cancer-specific survival rates of ~50-60%1-4....
Patients with high-grade serous ovarian cancer (HGSC) have experienced little improvement in overall survival, and standard treatment has not advanced beyond platinum-based combination chemotherapy, during the past 30 years. To understand the drivers of clinical phenotypes better, here we use whole-...
ORGANISM(S): Homo sapiens 
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