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• Breast RNA Sequencing

  We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001001340

• BASIS RNA Sequencing

  We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001001341

• Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

  We have sequenced four samples to identify variants in KMT2A gene. Three samples were sequenced with WGS, one was sequenced by WES (Patient2).

  Dataset EGAD00001004838

• Amplicon sequencing of adenoma to carcinoma paired samples from colon

  Colorectal cancer panel sequencing of 100 adenoma and carcinoma samples . Cancer Hot Spot panel sequencing of 7 samples from one poly.

  Dataset EGAD00001004848

• APCDR Uganda GWAS - High depth sequencing of a Baganda trio

  A family trio from Uganda (Baganda ethno-linguistic group) has been sequenced to high depth (ca. 30x) on the Illumina HiSeq 2500 platform.

  Dataset EGAD00001005346

• 18 ctDNA and matched tumor sequencing from SCLC patients

  BAM files corresponding to sequencing of 18 circulating tumor DNA and matched tumor samples from SCLC patients. Each ctDNA sample was sequenced twice.

  Dataset EGAD00001005460

• 28 ctDNA and matched tumor sequencing from SCC patients

  BAM files corresponding to sequencing of 28 circulating tumor DNA and matched tumor samples from SCC patients. Each ctDNA sample was sequenced twice.

  Dataset EGAD00001005462

• Infant HGG targeted sequencing

  Targeted sequencing of infant high grade gliomas. BAM files of paired end reads aligned to GRCh37 with bwa. This targeted panel covers the exons of 435 genes commonly mutated in high grade gliomas in children.

  Dataset EGAD00001005248

• RNA-seq cohort of non-tumorous breast tissue from BRCA1/2 carriers

  Non-tumorous breast tissues from BRCA1 or BRCA2 carriers were subject to RNA sequencing. The total number of samples is 130.

  Dataset EGAD00001006746

• ATAC Analysis of Treg and Tfh cells

  Treg and Tfh cells (8 Samples)from the same donors was subject to ATAC-seq processing. Paired end fastq-files are supplied.

  Dataset EGAD00001007660