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• Xenium analysis on Crohn's disease and control specimen

  Xenium analysis was performed on surgically resected Crohn's disease specimens and control specimens. The purpose of this study was to characterize the different features between intra-lymphatic antigen-presenting cells in Crohn's disease and those in controls.

  Study JGAS000697

• Edinburgh_Naevi_Cohort

  In this project we have sequenced the exome of skin moles (melanocytic naevi) and also normal skin from young and old people. We are interested in looking at the clonality of these lesions and the burden of UV mutations

  Study EGAS00001002347

• Lung_Multi_site_Targeted_Sequence_Capture

  DNA extracted from multiple biopsies taken from different areas of primary lung tumours will be subjected to targeted re-sequencing and analysed in order to assess intra-tumour heterogeneity with respect to mutations in a selection of cancer related genes.

  Study EGAS00001000436

• Moles

  In this project we have sequenced the exome of skin moles (melanocytic naevi) and also normal skin from young and old people. We are interested in looking at the clonality of these lesions and the burden of UV mutations

  Study EGAS00001000789

• Multisite_Primary_Breast_Cancer

  DNA extracted from multiple biopsies taken from different areas of primary breast tumours will be subjected to targeted re-sequencing and analysed in order to assess intra-tumour heterogeneity with respect to mutations in a selection of cancer related genes.

  Study EGAS00001000891

• NLG-LBC-05 ctDNA

  Correlative analysis of circulating tumor DNA (ctDNA) in aggressive large B-cell lymphoma patients treated in NLG-LBC-05 phase II trial. Whole genome and targeted sequencing was applied to longitudinal plasma cell-free DNA and diagnostic tumor tissues.

  Study EGAS00001005835

• Variants from a subset of genes from WES of adult AML patient samples

  The aim if this study was to identify variants in a specific list of genes in samples from adult AML patients. The gene list includes DNA repair and mitochondrial respiratory chain genes.

  Study EGAS00001006185

• GATCI whole genome somatic variants (SomaticSniper)

  Sequence data in fastq format was aligned to the GRCh38 reference genome with BWA-MEM and preprocessed with GATK for indel realignment and base quality score recalibration. Aligned sequence was analyzed with SomaticSniper to generate somatic variant calls. Variant calls are in VCF format. In total, there are 60 tumour samples from 38 patients, all with matched normal. Further details can be found in the vcf headers

  Dataset EGAD00001005818

• GATCI whole genome somatic variants (MuTect)

  Sequence data in fastq format was aligned to the GRCh38 reference genome with BWA-MEM and preprocessed with GATK for indel realignment and base quality score recalibration. Aligned sequence was analyzed with MuTect to generate somatic variant calls. Variant calls are in VCF format. In total, there are 60 tumour samples from 38 patients, all with matched normal. Further details can be found in the vcf headers.

  Dataset EGAD00001005822

• GATCI whole genome germline variants

  Sequence data in fastq format was aligned to the GRCh38 reference genome with BWA-MEM and preprocessed with GATK for indel realignment and base quality score recalibration. Aligned sequence was analyzed with GATK HaplotypeCaller to generate germline variant calls. Variant calls are in VCF format. In total, there are 60 tumour samples from 38 patients, all with matched normal. Further details can be found in the vcf headers

  Dataset EGAD00001005817