Search Results - EGA European Genome-Phenome Archive

The genomic architecture of mesothelioma

The genome-wide landscape of somatically acquired mutations in mesothelioma has not been deeply characterised to date, but advances in DNA sequencing technology now allow this to be addressed comprehensively. Harnessing massively parallel DNA sequencing platforms, we will identify somatically acquired point mutations in all coding regions of the genome from patients with mesothelioma. In addition, using paired-end sequencing, we will map copy number changes and genomic rearrangements from the same patients.

Dataset EGAD00001000360

Targeted gene fusion sequencing (Fus-seq) in mesothelioma

This is a small pilot data set to test the feasibility of cDNA exomes across 1200 cancer cell line panel. cDNA exomes or Fus-seq is further explained in this studies Abstract.

Dataset EGAD00001000361

A common single nucleotide variant in T is strongly associated with chordoma

Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.

Dataset EGAD00001000226

Melanoma-TIL Study Exomes

Dataset EGAD00001000243

Integrative Oncogenomics of multiple myeloma

Dataset EGAD00001000246

Integrative Oncogenomics of multiple myeloma

Dataset EGAD00001000247

DATA FILES FOR SJRB

Retinoblastoma whole genome sequencing

Dataset EGAD00001000261

Chondrosarcoma Targeted Sequencing Study

This Study uses a focused bespoke bait pull down library method to target findings of Chondrosarcoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

Dataset EGAD00001000265

Osteosarcoma Targeted Sequencing Study

This Study uses a focused bespoke bait pull down library method to target findings of Osteosarcoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

Dataset EGAD00001000266

Chordoma Targeted Sequencing Study

This Study uses a focused bespoke bait pull down library method to target findings of Chordoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

Dataset EGAD00001000267

Pilot study Pilocytic Astrocytoma ICGC PedBrain, whole genome sequencing of 5 tumors and matched blood

Dataset EGAD00001000271

Meningioma Targeted Sequencing Study

This Study uses a focused bespoke bait pull down library method to target findings of Meningioma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

Dataset EGAD00001000273