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• Reliable assessment of telomere maintenance mechanisms in neuroblastoma

  Telomere maintenance mechanisms (TMM) are a hallmark of high-risk neuroblastoma, and are conferred by activation of telomerase or alternative lengthening of telomeres (ALT). However, detection of TMM is not yet part of the clinical routine, and consensus on TMM detection, especially on ALT assessment, remains to be achieved. We here propose a workflow to reliably detect TMM in neuroblastoma. We show that unambiguous classification is feasible following a stepwise approach that determines both, activation of telomerase and ALT. The workflow proposed in this study can be used in clinical routine and provides a framework to systematically and reliably determine telomere maintenance mechanisms for risk stratification and treatment allocation of neuroblastoma patients.

  Study EGAS00001006510

• T cell reactivity of MHC epitopes

  By using >36,000 immunogenicity assay results, we developed a method to identify peptide-MHC complexes whose structural alignment facilitates T cell reaction. Our method accurately predicted neoepitopes for MHC II as well as MHC I that were responsive to checkpoint blockade when applied to >1,200 samples of various tumor types and on-therapy melanoma samples. To investigate selection by spontaneous immunity at the single epitope level, we analyzed the frequency spectrum of >25 million mutations in >9,000 treatment-naïve tumors in association with >100 immune phenotypes. MHC II immunogenicity specifically lowered variant frequencies in tumors under high immune pressure particularly with high TCR clonality and MHC II expression.

  Study EGAS00001006445

• Identification and functional characterisation of a rare MTTP variant underlying familial non-alcoholic fatty liver disease

  We identified a rare causal variant in MTTP, c.1691T>C p.I564T (rs745447480) encoding microsomal triglyceride transfer protein (MTP) causing progressive non-alcoholic fatty liver disease with cirrhosis and hepatocellular carcinoma unrelated to metabolic syndrome, without manifestations of abetalipoproteinemia, in a four generation family with South Asian ancestry. Variant-expressing hepatocyte-like-cells (HLCs) derived from human induced pluripotent stem cells generated from homozygous donor skin fibroblasts had lower lipoprotein ApoB secretion, compared to wild type cells. Cytoplasmic triglyceride accumulation in HLCs triggered endoplasmic reticulum stress, secretion of pro-inflammatory mediators, production of reactive oxygen species, delineating the progression of disease associated with homozygosity for MTTP p.I564T

  Study EGAS00001005254

• Chip_seq_oesophageal_adenocarcinoma_

  There is complex interplay between underlying genetic sequence and epigenetic factors, however this interplay is still illusive. Massively reconstructed cancer genomes can be used in order to better understand this relationship. Six oesophageal adenocarcinoma organoids will be sequenced using long read sequencing technologies and will be profiled for a range of epigenetic marks. Combination of genetic and epigenetic data will allow the thorough characterisation of reference cancer genomes and will provide novel insights into mechanisms of gene regulation. Description: Chip-seq Sequencing of 5 patient derived organoid cell models. Each model was derived from a piece of patient tumour taken following surgical rescetion of the tumour. All model derivations took place with the CGaP facility in Sanger.

  Study EGAS00001007180

• Targeted de novo phasing and long-range assembly by template mutagenesis

  Long-range sequencing with low error rate has been challenging. Sequence assembly and phasing usually require a high-quality reference genome for mapping, so working on highly-variable genomic regions or regions with no reference genome information would be difficult. In this study, we describe novel bench protocols and algorithms to obtain ultra-low-error-rate haplotype-phased sequence assemblies of regions 10 KB in length using a short-read sequencing platform that simultaneously solves the above two problems. We accomplish this by imprinting each template strand from a target region with a dense and unique mutation pattern. The mutation process randomly and independently converts ~50% of cytosines to uracils. Short-read sequencing libraries are made from both mutated and unmutated templates. A conservative de Bruijn graph approach seeds an assembly of the mutated templates, which we then extend by mapping paired-end reads. We next partition the template assemblies into two or more haplotypes after using the unmutated sequence library to recover almost all of the mutated bases. The final haplotype is assembled and corrected for residual template mutations and PCR errors. We obtain per-base-error rates below 10 9. We apply this method to a human family, correctly assembling and phasing three genomic intervals, including the highly polymorphic HLA-B gene.

  Dataset EGAD00001008444

• Tumour sample for patient SA230

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA230

  Dataset EGAD00001009524

• Tumour sample for patient SA211

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA211

  Dataset EGAD00001009523

• Tumour sample for patient SA232

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA232

  Dataset EGAD00001009522

• Tumour sample for patient SA597

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA597

  Dataset EGAD00001009521

• Tumour sample for patient SA296

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA296

  Dataset EGAD00001009520

• Tumour sample for patient SA420

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA420

  Dataset EGAD00001009519

• Tumour sample for patient SA409

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA409

  Dataset EGAD00001009518

• Tumour sample for patient SA533

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA533

  Dataset EGAD00001009517

• Tumour sample for patient SA234

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA234

  Dataset EGAD00001009525

• Tumour sample for patient SA278

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA278

  Dataset EGAD00001009526

• Tumour sample for patient SA101

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA101

  Dataset EGAD00001009527

• Tumour sample for patient SA212

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA212

  Dataset EGAD00001009528

• Tumour sample for patient SA214

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA214

  Dataset EGAD00001009529

• Tumour sample for patient SA224

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA224

  Dataset EGAD00001009530

• Tumour sample for patient SA225

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA225

  Dataset EGAD00001009531

• Tumour sample for patient SA226

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA226

  Dataset EGAD00001009532

• Tumour sample for patient SA228

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA228

  Dataset EGAD00001009533

• Tumour sample for patient SA229

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA229

  Dataset EGAD00001009534

• Tumour sample for patient SA231

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA231

  Dataset EGAD00001009535

• Tumour sample for patient SA233

  Whole genome sequencing of tumour sample for triple negative breast cancer patient SA233

  Dataset EGAD00001009536