5524 results for "*oma"

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• Whole genome analyses of the childhood cancer neuroblastoma

  Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases), and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average each tumor had 19 somatic alterations in coding genes (range, 3-70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of chromatin remodeling genes, ARID1A and ARID1B, were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of neuroblastoma patients.

  Dataset EGAD00001000282

• SCAT_Osteosarcoma_Validation

  This experiment is to validate putative somatic substitutions and indels identified in an exome screen of ~50 osteosarcoma tumour/normal pairs. It is the first stage in our ICGC commitment to study osteosarcoma. The validation process is an important component of our analysis to clarify the data prior to looking for evidence of new cancer genes, or subverted pathways important in the development of cancer. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Dataset EGAD00001000280

• Data set for Whole-genome-Sequencing of adult medulloblastoma

  Data set for Whole-genome-Sequencing of adult medulloblastoma

  Dataset EGAD00001000275

• UK10K_RARE_COLOBOMA REL-2012-07-05

  UK10K_RARE_COLOBOMA REL-2012-07-05

  Dataset EGAD00001000206

• Neuroblastoma samples (Analyses_vcf files)

  Neuroblastoma samples (Analyses_vcf files)

  Dataset EGAD00001000202

• Neuroblastoma samples

  Neuroblastoma samples

  Dataset EGAD00001000196

• UK10K_RARE_COLOBOMA REL-2012-01-13

  UK10K_RARE_COLOBOMA REL-2012-01-13

  Dataset EGAD00001000179

• Identification of SPEN as a novel cancer gene and FGFR2 as a potential therapeutic target in adenoid cystic carcinoma

  Identification of SPEN as a novel cancer gene and FGFR2 as a potential therapeutic target in adenoid cystic carcinoma

  Dataset EGAD00001000175

• UK10K_RARE_COLOBOMA REL-2012-02-22

  UK10K_RARE_COLOBOMA REL-2012-02-22

  Dataset EGAD00001000185

• SCAT osteosarcoma sequencing

  SCAT osteosarcoma sequencing

  Dataset EGAD00001000107

• Meningioma Exome

  Meningioma Exome

  Dataset EGAD00001000099

• Pancreatic adenocarcinoma QCMG 20120201

  Pancreatic adenocarcinoma QCMG 20120201

  Dataset EGAD00001000096

• Glioma cell lines rearrangement screen

  Glioma cell lines rearrangement screen

  Dataset EGAD00001000090

• Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing

  Splenic Marginal Zone Lymphoma with villous lymphocytes exome sequencing

  Dataset EGAD00001000081

• Integrative Oncogenomics of Multiple Myeloma

  Integrative Oncogenomics of Multiple Myeloma

  Dataset EGAD00001000074

• Kaposi sarcoma exome

  Kaposi sarcoma exome

  Dataset EGAD00001000071

• Acral melanoma study whole genomes

  Acral melanoma study whole genomes

  Dataset EGAD00001000060

• Acral melanoma study whole exomes

  Acral melanoma study whole exomes

  Dataset EGAD00001000061

• EGAD00000000119

  Genotypes from cell lines derived from breast carcinoma tissue

  Dataset EGAD00000000119

• EGAD00000000114

  Whole transcriptome sequence data from 18 ovarian clear-cell carcinoma samples and one TOV21G ovarian clear-cell carcinoma cell line

  Dataset EGAD00000000114

• EGAD00000000052

  Sequencing data from natching Pancreatic Carcinoma samples

  Dataset EGAD00000000052

• EGAD00000000051

  Sequencing data from matching Renal Carcinoma samples

  Dataset EGAD00000000051

• Exome data from a high-density melanoma family

  This dataset contains whole-exome sequence data from four individuals in a high-density melanoma family. Sequences were aligned against human reference genome HG19 using BWA.

  Dataset EGAD50000002153

• Large deletion predisposes to familial melanoma

  Mutations in CDKN2A and CDK4 account for ~40% of multi-case melanoma families, with another ~10% attributable to BAP1 and genes associated with telomere maintenance. Thus, a substantial proportion of the genetic risk underlying familial melanoma remains unexplained.

  Study EGAS50000001496

• Whole-genome data from a high-density melanoma family

  This dataset contains whole-genome sequence data from individuals in a high-density melanoma family. Sequences were aligned againt the human reference genome HG19 using BWA.

  Dataset EGAD50000002154