Project description:Affymetrx U95Av2 GeneChip hybridizations, RNA extracted from primary human pediatric alveolar (aRMS) and embryonal (eRMS) rhabdomyosarcoma, plus primary pediatric Ewing's sarcoma (EWS) Keywords = pediatric sarcoma Keywords = Ewing's sarcoma Keywords = rhabdomyosarcoma Keywords: other

2004-03-13 | GSE967 | GEO

Genomic sequencing of Pediatric Rhabdomyosarcoma

Project description:Genomic sequencing of Pediatric Rhabdomyosarcoma

| PRJNA238611 | ENA

Transcription profiling of human pediatric alveolar (aRMS) and embryonal (eRMS) rhabdomyosarcoma, plus primary pediatric Ewings sarcoma (EWS)

2007-09-29 | E-GEOD-967 | biostudies-arrayexpress

Genetic landscape of pediatric Rhabdomyosarcoma

Project description:We performed whole-genome sequencing of 13 paired tumor/normal Rhabdomyosarcoma genomes and analyzed somatically acquired single nucleotide variations SNVs, insertion/deletions, structural variations and copy number variations in the cancer genomes

| EGAS00001000256 | EGA

A single-cell/nucleus atlas of pediatric rhabdomyosarcoma

Project description:A single-cell/nucleus atlas of pediatric rhabdomyosarcoma

| PRJNA729647 | ENA

Somatic piRNA pathway prevents transgenerational germline transposition

Project description:Somatic piRNA pathway prevents transgenerational germline transposition

| PRJNA449636 | ENA

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

Project description:Little is known about the spectrum of mitochondrial DNA (mtDNA) mutations across pediatric malignancies. In this study, we analyzed matched tumor and normal whole genome sequencing data from 616 pediatric patients with hematopoietic malignancies, solid tumors, and brain tumors. We identified 391 mtDNA mutations in 284 tumors including 45 loss-of-function mutations, which clustered at four statistically significant hotspots in MT-COX3, MT-ND4, and MT-ND5, and at a mutation hotspot in MT-tRNA-MET. A skewed ratio (4.83) of nonsynonymous versus synonymous (dN/dS) mtDNA mutations with high statistical significance was identified on the basis of Monte Carlo simulations in the tumors. In comparison, opposite ratios of 0.44 and 0.93 were observed in 616 matched normal tissues and in 249 blood samples from children without cancer, respectively. mtDNA mutations varied by cancer type and mtDNA haplogroup. Collectively, these results suggest that deleterious mtDNA mutations play a role in the development and progression of pediatric cancers. SIGNIFICANCE: This pan-cancer mtDNA study establishes the landscape of germline and tumor mtDNA mutations and identifies hotspots of tumor mtDNA mutations to pinpoint key mitochondrial functions in pediatric malignancies.

| S-EPMC6445760 | biostudies-literature

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