5495 results for "*oma"

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• WGS files for paper titled "Sensitive detection of MYCN amplified neuroblastoma in blood samples with structural variants using whole genome sequencing"

  This dataset contains one long read whole genome sequence tumor sample. 2.5µg of patient DNA was used to prepare SMRTbell sequencing library following the “Preparing whole genome and metagenome libraries using SMRTbell® prep kit 3.0” protocol (PacBio). Sequencing was conducted on PacBio Revio+SPRQ chemistry with 250pM loading concentration, generating 35x mean coverage for the whole genome. Reads were mapped to human genome assembly GRCh37 using pbmm2 v1.17.0 (https://github.com/PacificBiosciences/pbmm2)

  Dataset EGAD00001016133

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Angioleiomyoma_WES

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016134

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Glomus tumour_WES

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016135

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Angioleiomyoma_RNAseq

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016136

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Myopericytoma_RNAseq

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016137

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Glomus tumour_RNAseq

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016138

• CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Myopericytoma_WES

  Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).

  Dataset EGAD00001016139

• BLUEPRINT September 2016, ChIPmentation Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma from lymph node, on Genome GRCh38

  ChIPmentation data for 2 sample(s) Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma from lymph node, on Genome GRCh38. 6 run(s), 6 experiment(s), 6 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002946

• BLUEPRINT September 2016, ChIPmentation Activated B-Cell-Like Diffuse Large B-Cell Lymphoma from lymph node, on Genome GRCh38

  ChIPmentation data for 2 sample(s) Activated B-Cell-Like Diffuse Large B-Cell Lymphoma from lymph node, on Genome GRCh38. 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002944

• BLUEPRINT September 2016, ChIPmentation Burkitt Lymphoma from lymph node, on Genome GRCh38

  ChIPmentation data for 3 sample(s) Burkitt Lymphoma from lymph node, on Genome GRCh38. 10 run(s), 8 experiment(s), 8 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002939