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• RNA-seq data for HCC patients from Y90+Nivolumab trial

  This dataset includes RNA-seq fastq files of pre-treatment and on-treatment samples from 28 patients

  Dataset EGAD00001010132

• Raw sequencing data for PicoCNV and MutLX2 development papers

  Bulk tumour, germline and DigiPico WGS BAM files from patients 11611, 11615, 11619

  Dataset EGAD00001010302

• RNA-sequencing of cohesin-mutated and wildtype adult AMLs

  Transcriptomic data generated by RNA-sequencing for adult human AMLs with STAG2 or RAD21 mutations or no cohesin mutations (CTRL-AMLs).

  Dataset EGAD00001011197

• Whole genome sequencing of 78 follicular lymphoma tumours and matched normals

  Whole genome sequencing for tumour/normal matched pairs from 78 samples

  Dataset EGAD00001011343

• RNA sequencing for gastric cancer ascites

  Whole transcriptome sequencing (RNA-seq) was performed on 39 PC specimens. Among them, 21 specimens also had WES data.

  Dataset EGAD00001004365

• APCDR AGV Project: Low depth (4x) sequence data from an Ugandan population (BAMs)

  Low depth (4x) Illumina HiSeq raw sequence data for 100 unrelated Baganda from rural Uganda.

  Dataset EGAD00001001008

• ICGC Benchmark 2 (Medulloblastoma)

  Raw fastq files for sequence data generated at 5 sequencing centers from a Medulloblastoma sample and matching blood normal control.

  Dataset EGAD00001001859

• We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy.

  We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy.

  Study EGAS00001002718

• We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy.

  We performed whole-exome sequencing and whole epigenome sequencing (RRBS) of samples collected from different time points during radiotherapy from thirty-four ESCC patients. We compared the genetic and epigenetic features of the different time biopsy samples to reveal the changes in ESCC received radiotherapy.

  Study EGAS00001002719

• Novel APC Promoter and Exon 1B Deletion and Allelic Silencing in Three Mutation-Negative Classic Familial Adenomatous Polyposis Families

  The ~80% of individuals with classic familial adenomatous polyposis (FAP) have detectable mutations in the coding sequence of the adenomatous polyposis coli (APC) gene. To investigate the 20% of families without detectable causative mutations, we used exome sequencing and second-generation sequencing of the APC locus including non-coding regions. We identified a novel ~11kb deletion 44kb upstream of APC that was present only in affected individuals of three kindreds. SNP analysis showed that this ~11kb deletion was accompanied by silencing of one of the APC alleles in blood-derived RNA of affected individuals.

  Study phs000904