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• NHLBI TOPMed: Children's Health Study (CHS) Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP)

  The Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP) study was proposed to use an innovative genetics approach in mice and humans to identify novel variants that interact with traffic-related pollutant exposures to affect lung function phenotypes and the risk of childhood asthma. The study participants were enrolled from the original southern California Children's Health Study (CHS). In the TOPMed project, seven Hispanic White participants who did not have asthma history were included in the WGS analysis.

  Study phs001602

• ALPI deficiency and inflammatory bowel disease

  Inflammatory bowel diseases (IBDs) are complex and severe disorders ascribed to alterations in the dialogue between the microbiota and the host immune system (Bouma & Strober, 2003; Maloy & Powrie, 2011). By using whole‐exome sequencing (WES), we report the identification of compound heterozygous ALPI mutations in two unrelated patients displaying severe intestinal inflammation and autoimmunity. ALPI encodes the Intestinal alkaline phosphatase, a brush border metalloenzyme that catalyses phosphate hydrolysis of the lipid moiety of LPS and thereby drastically reduces LPS pro‐inflammatory activity (Schromm et al, 1998; Goldberg et al, 2008).

  Study EGAS00001002847

• Copy number analysis by SNP array

  Hybridization-based genomic profiling arrays were performed using Genome-Wide Human SNP Array 6.0 or the CytoScan HD array, according to the manufacturer’s instructions (Affymetrix, Santa Clara, CA, USA) now part of Thermo Fisher Scientific (Thermo Fisher Scientific, Inc.) Following the procedures of sample preparation, hybridization, and scanning, the CEL file of Genome-Wide Human SNP Array 6.0 was analyzed as previously described (Magrangeas et al. 2012) and the CEL file of CytoScan HD array was analyzed using the Chromosome Analysis Suite (ChAS) software (Thermo Fisher Scientific, Inc).

  Study EGAS00001005125

• Fecal microbiome predicts treatment response after the initiation of semaglutide or empagliflozin uptake

  To investigate the effect of semaglutide and empagliflozin initiation on the gut microbiome of type 2 diabetes patients. In addition, to analyze whether the pre-treatment gut microbiome can predict the treatment efficacy. Gut microbiome fecal samples donated at four timepoints (Baseline, Month 1, Month 3; Month 12) were studied using 16S ribosomal RNA gene sequencing and analysis.

  Study EGAS50000000531

• Whole exome sequencing of normal CD34+ cells

  The Genomic DNA Clean & Concentrator kit (ZYMO Research) was used to remove EDTA from the DNA samples. Sample libraries were prepared using 100 ng of input according to the KAPA HyperPlus Kit (Roche) using Unique Dual Index adapters (Integrated DNA Technologies, Inc.). Exomes were captured using the SeqCap EZ MedExome (Roche Nimblegen) according to SeqCap EZ HyperCap Library v1.0 Guide (Roche) with the xGen Universal blockers – TS Mix (Integrated DNA Technologies, Inc.). The amplified captured sample libraries were paired-end sequenced (2x100 bp) on the Novaseq 6000 platform (Illumina) and aligned to the hg19 reference genome using the Burrows-Wheeler Aligner (BWA)3, v0.7.15-r1140.

  Dataset EGAD00001007645

• Tumor suppressor miR-133a modulates the prostate cancer epigenome by repressing BAZ2A

  Our study revealed a new subgroup of prostate tumors defined by the expression of a novel prognostic marker, BAZ2A, and the first time to show the establishment of CIMP via an microRNA-epigenetic interaction in prostate tumors.

  Study EGAS00001000568

• Nuclear Optimized 10x data

  Optimized 10x library to increase the coverage of selected nuclear variants from 3’ 10x Genomics scRNAseq data. SNVs were selected based on exome data and criteria described in the Supplementary Information of the manuscript.See details of the experimental method in the methods section of the manuscript

  Dataset EGAD00001010192

• Innate and Adaptive Immunity in Parkinson Disease-P20

  Increasing evidence supports the role of brain and systemic inflammation in the etiology of Parkinson disease (PD). We used gene expression profiling (RNA-seq) to examine the activation state of peripheral blood monocytes in 18 patients with early, untreated PD and 16 healthy control (HC) subjects. Monocytes were isolated by negative selection, and gene expression studied by RNA-seq and gene set enrichment analysis. A computational model that incorporated case/control status, sex, and the interaction between case/control status and sex was utilized. We found that there was a striking effect of sex on monocyte gene expression. There was inflammatory activation of monocytes in females with PD, with enrichment of gene sets associated with interferon gamma stimulation. In males, the activation patterns were more heterogeneous. These data point to the importance of systemic monocyte activation in PD, and the importance of studies which examine the differential effects of sex on pathophysiology of the disease.

  Study phs002063

• SNP genotyping of multiplex autoimmune Addison's families from the UK and Norway

  Multiplex AAD families from the UK and Norway, genotyped on the Affymetrix SNP 6 array

  Study EGAS00001001237

• Walter and Eliza Hall Institute - University of Melbourne

  Data Access Committee for Gocuk, Lancaster et al. 2024: nanopore sequencing data of patients with choroideremia and X-linked retinitis pigmentosa, to determine X inactivation skew.

  Dac EGAC50000000301

• MS-Twins-EPIC-PBMCs

  Genome-wide DNA methylation profiles of MZ twins clinically discordant for MS generated using Illumina’s Infinium MethylationEPIC BeadChip assay (EPIC array)

  Dataset EGAD00010001618

• GR@ACE_StageI.v01

  Binary Plink files for pre-GWAS quality control in 7409 samples genotyped using Axiom 815K Spanish Biobank array (Thermo Fisher)

  Dataset EGAD00010001654

• Clinical data

  Clinical data for KATHERINE: Clinical data include Treatment Arm, Invasive Disease Free Survival (IDFS), Clinical Stage at Presentation, Hormone Receptor Status, Preoperative HER2 Directed Therapy, Pathological Node.

  Dataset EGAD00001008785

• Reconstructed BCRs

  Computationally reconstructed B-cell receptor sequences (using BraCeR) from scRNA-seq data for all cells passing quality control.

  Dataset EGAD00001008456

• TLR7 variants in human lupus patients

  Set of 2 bam files from patients affected with Lupus. Fastq alignments for exonic variants present in TLR7 gene.

  Dataset EGAD00001008534

• Leeds Paired Primary and Recurrent GBM RNAseq

  Whole transcriptome, strand-directional RNAseq data for paired primary dn recurrent samples from patients with glioblastoma

  Dataset EGAD00001005224

• Oxford Human islet ATAC-seq dataset of 5 human islets

  ATAC-seq data for 5 non-diabetic human pancreatic islet samples

  Dataset EGAD00001003759

• Reference epigenome IPS02_N_NPC_mRNA-Seq data generated from KEP study

  A IPS02_N_NPC_mRNA-Seq paired end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003489

• Reference epigenome IPS03_N_ENeuron_mRNA-Seq data generated from KEP study

  A IPS03_N_ENeuron_mRNA-Seq paired end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003490

• Reference epigenome IPS05_X_NPC_mRNA-Seq data generated from KEP study

  A IPS05_X_NPC_mRNA-Seq paired end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003492

• Reference epigenome IPS06_X_ENeuron_mRNA-Seq data generated from KEP study

  A IPS06_X_ENeuron_mRNA-Seq paired end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003493

• Reference epigenome IPS02_N_NPC_smRNA-Seq data generated from KEP study

  A IPS02_N_NPC_smRNA-Seq single end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003502

• Reference epigenome IPS03_N_ENeuron_smRNA-Seq data generated from KEP study

  A IPS03_N_ENeuron_smRNA-Seq single end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003503

• Reference epigenome IPS05_X_NPC_smRNA-Seq data generated from KEP study

  A IPS05_X_NPC_smRNA-Seq single end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003505

• Reference epigenome IPS06_X_ENeuron_smRNA-Seq data generated from KEP study

  A IPS06_X_ENeuron_smRNA-Seq single end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003506