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• Disease specific alterations in the olfactory mucosa of patients with Alzheimer’s disease

  The sample AD_Library_1, AD_Library_2 and Control_Library were run on a Chromium Chip B with the Chromium Single Cell 3′ Library & Gel Bead Kit v3 kit (10x Genomics, CA, USA) . The 3’ gene expression libraries were sequenced at an approximate depth of 50,000 reads per cell using the NovaSeq 6000 S1 (Illumina, San Diego, CA, USA) flow cells. Cell Ranger v.3.0.2 was used to analyze the raw base call files. FASTQ files and raw gene-barcode matrices were generated and aligned human genome GRCh37 (hg19). The samples were integrated in R v.4.0.3 and generated Seurat objects, two related to AD samples and one to control samples, were analyzed using the Seurat package v.4.0.3 to perform downstream analysis, clustering of the cells and differential expression.

  Dataset EGAD00001008560

• Fragmentomics profiling and quantification of plasma Epstein-Barr virus DNA enhance prediction of future nasopharyngeal carcinoma.

  This dataset included human plasma EBV DNA target-capture sequencing data. The capture probes were designed to cover the entire EBV genome and selected human autosomal regions. After enrichment, the products were sequenced on the NextSeq500 System (Illumina) and aligned to the EBV genome (AJ507799.2) and the human genome (hg19) in BAM format. A total of 558 cases were analyzed, including seven subjects who developed NPC in the second-round screening, 431 non-NPC subjects with first-round transiently positive EBV, and 120 non-NPC subjects with first-round persistently positive EBV.

  Dataset EGAD50000001449

• Randomized Phase II 2 x 2 Factorial Trial of the Addition of Carboplatin +/- Bevacizumab to Neoadjuvant Weekly Paclitaxel Followed by Dose-Dense AC in Hormone Receptor-Poor/HER2-Negative Resectable Breast Cancer: DNA Sequencing

  This randomized phase II trial studies how well paclitaxel with or without carboplatin and/or bevacizumab followed by doxorubicin and cyclophosphamide works in treating patients with breast cancer that can be removed by surgery. Drugs used in chemotherapy, such as paclitaxel, carboplatin, doxorubicin, and cyclophosphamide, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Bevacizumab may stop the growth of tumor cells by blocking blood flow to the tumor. Giving chemotherapy together with bevacizumab before surgery may make the tumor smaller and reduce the amount of normal tissue that needs to be removed. All participants in this study were female. RNA sequencing data from the same patients were published under phs001863. Subject aliases are the same in the two datasets.

  Study phs003801

• Genetic coupling of enhancer activity and connectivity in gene expression control

  In this study, we investigated whether the genetic effects of eQTLs on enhancer activity and enhancer-promoter contacts (connectivity) are inherently coupled or distinct. To address this, we performed Capture Hi-C targeting ~1100 eQTL loci, along with ATAC-seq and RNA-seq, in monocytes from 34 healthy male donors. Using single-modality and multi-modality Bayesian statistical approaches, we demonstrated that eQTL effects are predominantly shared across enhancer activity, connectivity, and gene expression. However, we also identified a locus where an eQTL disrupts a CTCF binding site at a putative insulator, facilitating contacts between the PCK2 gene promoter and downstream enhancers. To validate these findings, we used 4C-seq to confirm the allelic effects of eQTLs on enhancer-promoter connectivity at the PCK2 locus and another eQTL region associated with THBS1 expression, both of which showed consistent eQTL effects across all three modalities. Additionally, we conducted Hi-C on monocytes from two donors to map reference TADs and performed ChIP-seq to confirm the allelic effects of the PCK2 eQTL on CTCF binding. Together, these data provide comprehensive insights into the genetic coupling of enhancer activity, connectivity, and gene expression.

  Study EGAS50000000756

• Dataset SNP tumours

  This dataset contains 30 idat files each from 15 SNP array runs on patient colitis-associated colorectal cancer tumours. All phenotypes are cancer. See Baker et al. 2018 Supplementary Table 2 for patient details of 12 tumours used in the analyses in the publication.

  Dataset EGAD00010001587

• DESIGN-VUMC RNA-seq

  RNA-Seq data of 55 HPV-negative HNSCC specimens from patients treated at the VU medical Centre, Amsterdam, The Netherlands. HNSCC biopsy samples obtained prior to treatment (chemo-radiotherapy) were used for polyA mRNA sequencing.

  Dataset EGAD00001005716

• DESIGN-MAASTRO RNA-seq

  RNA-Seq data of 17 HPV-negative HNSCC specimens from patients treated at the MAASTRO clinic, Maastricht, The Netherlands. HNSCC biopsy samples obtained prior to treatment (chemo-radiotherapy) were used for polyA mRNA sequencing.

  Dataset EGAD00001005717

• The University of Hong Kong Gastric Cancer RHOA Study RNASeq Data

  RNAseq data generated from paired tumor frozen tissues in which the tumor organoids were established for cell-cell or cell-matrix adhesion dependency assay.

  Dataset EGAD00001008830

• IsoSeq Subreads bam files (PacBio)

  These are the raw subreads bam files for the pacbio IsoSeq data

  Dataset EGAD00001009514

• Childhood B-cell acute lymphoblastic leukemia genomic and transcriptomic data

  The aim of the two studies was: 1) to genetically characterise childhood leukemia patients that lacked established cytogenetic abnormalities (termed B-other leukemia) and assess the clinical features of recurrent genetic abnormalities. 2) Assess the accuracy of whole genome sequencing as a diagnostic genetic test in childhood leukemia, relative to other traditional methods (karyotyping, FISH, MLPA) and whole transcriptome sequencing. As a result, this study includes targeted DNA-sequencing, whole genome sequencing and whole transcriptome sequencing data on childhood leukemia patients enrolled on UK clinical trials (UKALL2003 and UKALL2011).

  Study EGAS00001006863

• MDD2000AFFY

  Sub-study QI: 941 cases of Major Depressive Disorder (MDD) from the Queensland Institute of Medical Research (QIMR), Australia Sub-study VU: 127 MDD cases from The Netherlands Study of Anxiety and Depression (NESDA) (http://www.nesda.nl) and The Netherlands Twin Registry (NTR) (http://www.tweelingenregister.org) based at the VU Amsterdam, The Netherlands. Sub-study ED: 373 MDD cases from the University of Edinburgh, UK.

  Study phs000658

• Genetic Studies in the Hutterites

  We conducted genetic studies of disease-associated quantitative phenotypes, including microbiome and gene expression studies, and common diseases, such as asthma and Alzheimer's disease, by genotyping and/or sequencing in the Hutterites, a founder population of European descent. The Hutterites who have participated in our studies live on communal farms in South Dakota and are related to each other through multiple lines of descent in a 3,657-person, 13-generation pedigree with 64 founders. The small number of founding genomes reduces genetic heterogeneity whereas their communal lifestyle ensures that non-genetic factors are remarkably uniform between individuals. Our sample includes >1,600 subjects who have participated in our studies of fertility (since 1982), asthma, cardiovascular disease and other complex phenotypes (since 1993), microbiome studies (since 2011), and/or immune response (since 2012). The variable 'Total number of consented subjects' reflects the count of subjects with individual level phenotype and genotype data in dbGaP.

  Study phs000185

• Whole genome DNA sequencing for two long-lived humans.

  Two long-lived human samples were sequenced to a mean 20x coverage genome wide. Sequencing was done using the Illumina hi-seq platform, alignment to GRCh37/hg19 reference genome was done using the BWA alignment tool.

  Study EGAS00001000877

• Dataset_for_linked_WES_and_WGS_data_from_EGAS00001004813 which belong also to EGAS00001005537 for germline controls of rare cancers

  WES/WGS sequencing data of 37 germline runs, which were uploaded to umbrella studies. The sequencing was always paired. The WGS sequencing was on HiSeq X Ten using the Illumina TruSeq DNA Nano Kit. The WES Sequencing was on HiSeq4000 with Agilent Sureselect V5+UTR.

  Dataset EGAD00001010046

• Sex chromosome aneuploidies give rise to changes in the circular RNA profile

  Purpose The landscape of circular RNAs (circRNAs), an important class of non-coding RNAs that regulate gene expression, has never been described in human disorders of sex chromosome aneuploidies. We profiled circRNAs in Turner syndrome females (45,X;TS) and Klinefelter syndrome males (47,XXY; KS) to investigate how circRNAs respond to a missing or an extra X chromosome. Methods Samples of blood, muscle and fat were collected from individuals with TS (n = 33) and KS (n = 22) and from male (n = 16) and female (n = 44) controls. CircRNAs were identified using a combination of circRNA identification pipelines (CIRI2, CIRCexplorer2 and circRNA_finder). Results Differential expression of circRNAs was observed throughout the genome in TS and KS, in all tissues. The host-genes from which several of these circRNAs were derived, were associated with known phenotypic traits. Furthermore, several differentially expressed circRNAs had the potential to capture micro RNAs that targeted protein-coding genes with altered expression in TS and KS. Conclusion Sex chromosome aneuploidies introduce pervasive changes in the circRNA transcriptome, demonstrating that the genomic changes in these syndromes are more complex than hitherto thought. CircRNAs may help explain some of the genomic and phenotypic traits observed in these syndromes.

  Study EGAS00001006404

• Microbiota and Complications in Kidney Transplant Recipients

  In this study, we investigated the role of the gut microbiota on the development of complications in kidney transplant recipients. We collected serial fecal specimens from 168 kidney transplant recipients within the first 3 months after transplantation. We performed 16S rRNA gene sequencing of the V4-V5 hypervariable region and examined whether the relative gut abundance of pathogenic bacteria was associated with future development of complications like bacteriuria and urinary tract infections. In a subset of samples, we performed metagenomic sequencing of stool and urine supernatant specimens to determine strain level analysis. We collected an additional 5 fecal specimens from 5 kidney transplant recipients to evaluate the gut microbiota's ability to convert inactive mycophenolic acid glucuronide to active mycophenolic acid and fecal specimens from one kidney transplant recipient several years after transplantation.

  Study phs001879

• Genomics of Blastic Plasmacytoid Dendritic Cell Neoplasm

  The goal of this study was to understand the genetic evolution and tumor phylogeny of blastic plasmacytoid dendritic cell neoplasm (BPDCN). BPDCN can present in patients with skin tumors of leukemia cells and no bone marrow or blood involvement, or alternatively, with both skin tumors and blood/bone marrow leukemia cells at the time of diagnosis. Here, we performed longitudinal sampling of tissues from patients with BPDCN, including both skin tumors and bone marrow, and in some cases serially at different time points through the course of diagnosis and treatment. These were studied by whole exome or whole genome DNA sequencing, comparing tumor samples to matched normal samples.

  Study phs003228

• Genome-wide SNP genotyping of Central African rainforest hunter-gatherers and neighbouring agriculturalists

  The emergence of agriculture in West-Central Africa, ~5,000 years ago, profoundly modified the cultural landscape and mode of subsistence of most sub-Saharan populations. How this major innovation has impacted the genetic history of rainforest hunter-gatherers — historically referred to as “pygmies” — and agriculturalists, however, remains poorly understood. Here, we report genome-wide SNP data from eight of these populations located west-to-east of the equatorial rainforest. We find that hunter-gathering populations present up to 50% of farmer genomic ancestry, and that substantial admixture began only within the last 1,000 years. Furthermore, we show that the historical population sizes characterising these communities already differed before the introduction of agriculture. Our results suggest that the first socio-economic interactions between rainforest hunter-gatherers and farmers introduced by the spread of farming were not accompanied by immediate, extensive genetic exchanges and occurred on a backdrop of two groups already differentiated by their specialisation in two ecotopes with differing carrying capacities.

  Study EGAS00001000605

• Deciphering the complex clonal heterogeneity of polycythemia vera and the response to interferon alpha

  We integrated colony formation and differentiation assays with single-cell RNA sequencing and single-cell genotyping in PV patient-derived cells vs. healthy controls to dissect how IFNa targets diseased clones during erythroid differentiation. Our findings indicate that PV-derived clones either undergo apoptosis or pass through their typical differentiation cycle, contributing to the long-term exhaustion of mutant cells in the bone marrow. The pivotal roles of ribosomal genes and clonal prerequisites in the therapeutic mechanism of IFNa are underscored by our study.

  Study EGAS50000000904

• SpainUDP Data Access Committee

  Data access committee handling data access requests for RNAseq data related to the Spanish Undiagnosed Rare Diseases Program SpainUDP cohort.

  Dac EGAC50000000932

• TSACP TruSeq Amplicon Panel dataset

  TSACP TruSeq Amplicon Panel dataset for the TraIT cell line use case

  Dataset EGAD00001002109

• GATCI whole genome sequencing fastqs

  Raw whole genome sequencing data (fastq) for the GATCI project

  Dataset EGAD00001005926

• Data Access Commitee for schizophrenia and control cases sequencing data

  Dac EGAC00001002810

• DAC for WGS data Romanians and Roma/Rroma (Romania)

  Dac EGAC00001001184

• Tytgat Institute for Liver and Intestinal Research Data Access Committee

  Dac EGAC00001001483