567 results for "24版指南"

in 47.50 milliseconds.

• Whole exome DNA sequencing pre-treatment on tumor samples (n=24) matched with blood samples (n=24)

  Data from NABUCCO cohort 1 (NCT03387761). This dataset includes Whole exome DNA sequencing on bladder tumor samples (n=24) matched with blood samples (n=24). The data is pre-treatment.

  Dataset EGAD00001006850

• Characterization of Arabian Peninsula whole exomes

  We conducted whole exome sequencing (using the SureSelect Human All Exon V5 + UTRs target enrichment kit) of 90 individuals from AP (23 from Saudi Arabia, 24 from Yemen, 24 from Oman and 19 from UAE).

  Study EGAS00001006487

• PDX-OmniExpress24

  Primary and PDX SqCC samples using Infinium OmniExpress-24

  Dataset EGAD00010001228

• RHD_SA_HC24_Controls

  Healthy volunteers recruited in Samoa

  Dataset EGAD00010000963

• macIDR validation data

  RNA-seq of 24 M-CSF differentiated human peripheral monocyte-derived macrophages (MDMs) activated with short exposure (3hours) to LPS, or long exposure (24 hours) to LPS, LPS with IFNγ, IFNγ, IL-4, IL-10, and dexamethasone.

  Dataset EGAD00001004584

• single-cell RNA-seq Case-Control study of children progressing to Type1 diabetes

  Single-cell RNA sequencing was carried out on four selected PBMC samples of Finnish children at risk of developing Type 1 diabetes and their gender age and HLA matched control children using 10X genomic platform. All four Case children were positive for multiple islet specific autoantibodies and two of them also progressed to clinical disease during the follow up whereas the control children remain negative for all autoantibodies. Age at seroconversion for Case 2, 3, 5, and 9 children is 12, 18, 24, and 18 months, respectively. Age at sampling, in months, for the pairs was as follows (Case/Control): pair 2:24/24; pair 3: 12/18; pair 5: 12/12; pair 9:24/18.

  Study EGAS00001004070

• TTN gene targeted sequencing for AMC cohort

  TTN gene targeted sequencing for AMC cohort (n=24)

  Dataset EGAD00001005497

• Targeted capture ctDNA Library CRCQV42Run021-24

  Targeted capture ctDNA Library CRCQV42Run021-24 from patient PBC0001653, saliva sample

  Dataset EGAD00001010445

• Targeted capture ctDNA Library CRCQV42Run026-24

  Targeted capture ctDNA Library CRCQV42Run026-24 from patient PBC0005064, saliva sample

  Dataset EGAD00001010495

• Targeted capture ctDNA Library CRCQV42Run050-24

  Targeted capture ctDNA Library CRCQV42Run050-24 from patient PBC0002494, buffy coat sample

  Dataset EGAD00001010797

• Targeted capture ctDNA Library CRCQV42Run020-24

  Targeted capture ctDNA Library CRCQV42Run020-24 from patient PBC0001310, plasma baseline sample

  Dataset EGAD00001010429

• Targeted capture ctDNA Library CRCQV42Run023-24

  Targeted capture ctDNA Library CRCQV42Run023-24 from patient PBC0002383, saliva sample

  Dataset EGAD00001010464

• Targeted capture ctDNA Library CRCQV42Run031-24

  Targeted capture ctDNA Library CRCQV42Run031-24 from patient PBC0001470, buffy coat sample

  Dataset EGAD00001010534

• Targeted capture ctDNA Library CRCQV42Run039-24

  Targeted capture ctDNA Library CRCQV42Run039-24 from patient PBC0001413, plasma baseline sample

  Dataset EGAD00001010619

• Targeted capture ctDNA Library CRCQV42Run047-24

  Targeted capture ctDNA Library CRCQV42Run047-24 from patient PBC0002989, buffy coat sample

  Dataset EGAD00001010735

• Targeted capture ctDNA Library CRCQV42Run048-24

  Targeted capture ctDNA Library CRCQV42Run048-24 from patient PBC0005531, buffy coat sample

  Dataset EGAD00001010756

• SNParray_ASD

  ASD samples using Illumina Infinium Human Core-24 BeadChip platform

  Dataset EGAD00010002229

• Targeted capture ctDNA Library CRCQV42Run035-24

  Targeted capture ctDNA Library CRCQV42Run035-24 from patient PBC0004565, plasma 9 month sample

  Dataset EGAD00001010588

• Targeted capture ctDNA Library CRCQV42Run041-24

  Targeted capture ctDNA Library CRCQV42Run041-24 from patient PBC0005116, plasma 3 month sample

  Dataset EGAD00001010633

• Targeted capture ctDNA Library CRCQV42Run036-24

  Targeted capture ctDNA Library CRCQV42Run036-24 from patient PBC0001328, plasma 36 month sample

  Dataset EGAD00001010602

• Targeted capture ctDNA Library CRCQV42Run043-24

  Targeted capture ctDNA Library CRCQV42Run043-24 from patient PBC0002329, plasma 3 month sample

  Dataset EGAD00001010653

• Targeted capture ctDNA Library CRCQV42Run051-24

  Targeted capture ctDNA Library CRCQV42Run051-24 from patient PBC0001319, buffy coat sample

  Dataset EGAD00001010817

• Targeted capture ctDNA Library CRCQV42Run029-24

  Targeted capture ctDNA Library CRCQV42Run029-24 from patient PBC0003334, plasma 3 month sample

  Dataset EGAD00001010517

• Targeted capture ctDNA Library CRCQV42Run044-24

  Targeted capture ctDNA Library CRCQV42Run044-24 from patient PBC0005531, plasma 9 month sample

  Dataset EGAD00001010674

• Targeted capture ctDNA Library CRCQV42Run045-24

  Targeted capture ctDNA Library CRCQV42Run045-24 from patient PBC0001409, plasma 3 month sample

  Dataset EGAD00001010695

• Targeted capture ctDNA Library CRCQV42Run046-24

  Targeted capture ctDNA Library CRCQV42Run046-24 from patient PBC0002494, plasma 3 month sample

  Dataset EGAD00001010715

• Neutrophils infected with Leishmania donovani

  In the context of studying visceral leishmaniasis, neutrophils infected with Leishmania donovani have been compared to uninfected neutrophils. Compared time points are 0, 6 and 24 hours post infection. Neutrophils of three human donors have been used. Overall 6 samples for infected neutrophils at time point 6 hours and 6 samples for infected neutrophils at time point 24 hours exist, including three biological samples and two technical samples. Uninfected neutrophils represent 3 samples at time point 0 hours, 3 samples at time point 6 hours and 3 samples at time point 24 hours. Transcriptome of Leishmania donovani culture has been assessed in two replicates.

  Study EGAS00001004912

• Targeted capture ctDNA Library CRCQV34Run007-24

  Targeted capture ctDNA Library CRCQV34Run007-24 from patient PBC0001051, TNBC FFPE sample

  Dataset EGAD00001010361

• Targeted capture ctDNA Library CRCQV34Run015-24

  Targeted capture ctDNA Library CRCQV34Run015-24 from patient PBC0002255, TNBC FFPE sample

  Dataset EGAD00001010385

• Targeted capture ctDNA Library CRCQV42Run017-24

  Targeted capture ctDNA Library CRCQV42Run017-24 from patient PBC0002294, TNBC FFPE sample

  Dataset EGAD00001010414

• Targeted capture ctDNA Library CRCQV42Run034-24

  Targeted capture ctDNA Library CRCQV42Run034-24 from patient PBC0001396, TNBC FFPE sample

  Dataset EGAD00001010572

• PACA-CA kras_deep_sequencing alignments in support of PACA-CA ICGC Release 24

  ICGC DCC Release 24, PACA-CA Deep KRAS sequencing

  Dataset EGAD00001003263

• Single cell RNA-seq of 24 samples from 13 individual human embryonic meninges of PCW 5.0-13.0 using 10X chromium technology

  A total of 24 samples of meninges from 13 normal human embryos of post-conceptional week (PCW) 5.0-13.0 were dissected and subject to 10Xgenomics chromium single cell RNA sequencing with the purpose of identifying cell types and gene expression programs for normal meninges development. All libraries were sequenced on an Illumina NovaSeq 6000 using S4 to a target sequencing depth of 100,000 reads/cell. Final data after processing with STARSolo 2.7.10a, using human genome GRCh38.p12 and transcript annotations from ENSEMBL release 93 from reference package GRCh38-3.0.0 as available from 10Xgenomics, consists of 24 BAM files.

  Dataset EGAD50000001434

• Copy Number Arrays

  Copy Number Alterations arrays from 21 patients and 24 samples performed by Affymetrix 6.0, Agilent 1M and Oncoscan CNV platforms

  Dataset EGAD00010001581

• Dataset of whole-exome sequencing of acute erythroid leukemia

  This dataset includes 48 bam files, including those of 24 tumors and 24 paired normal samples.

  Dataset EGAD00001005074

• H3Africa H3AChipDesign ELSI

  24 samples from Cameroon generated for the H3Africa Chip Design Study. The dataset includes BAM, FASTQ and decompressed gVCF files.

  Dataset EGAD00001004316

• Southern African Human Genome Programme dataset

  The SAHGP characterises the genomes of 24 individuals (8 Coloured and 16 black southeastern Bantu-speakers) using deep whole genome sequencing (WGS).

  Dataset EGAD00001003791

• Whole-genome-seqeuncing IMFT

  Whole-genome sequencing of IMFT tumor samples from 24 participants in the clinical phase II trial EORTC 90101 “CREATE” (CREATE IMFT cohort)

  Dataset EGAD00001007804

• Whole genome sequence of Primary-recurrent HCC study

  This dataset contains whole genome sequence data from 24 samples, including 16 tumors and 8 normal samples. All the experiments were performed on Illumina HiSeq 2000 platform with raw reads stored in fastq format.

  Dataset EGAD00001005451

• Characterization of Arabian Peninsula whole exomes

  We conducted whole exome sequencing (using the SureSelect Human All Exon V5 + UTRs target enrichment kit) of 90 individuals from AP (23 from Saudi Arabia, 24 from Yemen, 24 from Oman and 19 from UAE).

  Dataset EGAD00001009162

• Genome-wide array and mtDNA data Mercheros

  This dataset includes genome-wide autosomal array data and whole mtDNA sequences for 24 Merchero individuals.

  Dataset EGAD00001007763

• Whole-exome sequencing of IMFT tumor samples f

  Whole-exome sequencing of IMFT tumor samples from 24 participants in the clinical phase II trial EORTC 90101 “CREATE” (CREATE IMFT cohort)

  Dataset EGAD00001007803

• Exome sequencing of Non-syndromic Congenital Heart Defects (2019-04-24)

  Exome sequencing of ~1,800 patients with non-syndromic Congenical Heart Defects (CHD) to identify genes enriched for damaging rare variants that increase risk of CHD . This dataset contains all the data available for this study on 2019-04-24.

  Dataset EGAD00001004972

• Exome sequencing of Non-syndromic Congenital Heart Defects (2019-04-24)

  Exome sequencing of ~1,800 patients with non-syndromic Congenical Heart Defects (CHD) to identify genes enriched for damaging rare variants that increase risk of CHD . This dataset contains all the data available for this study on 2019-04-24.

  Dataset EGAD00001004975

• Pre-treatment PD-L1 staining on tumor samples (n=24)

  Data from NABUCCO cohort 1 (NCT03387761). This dataset includes the pre-treatment PD-L1 staining on tumor samples (n=24). Details about the PD-L1 staining can be found on the paper (https://doi.org/10.1038/s41591-020-1085-z)

  Dataset EGAD00001006856

• Gene expression in LPS-stimulated human monocyte-derived macrophages

  This dataset consists of RNA-seq data from human monocyte-derived macrophages that were subjected to siRNA treatment targeting RAD21 and either left untreated, or stimulated with LPS. In total, it includes 24 samples.

  Dataset EGAD00001007952

• 15 Healthy controls, 25 conlonrectal cancer patients without liver metastasis and 24 conlonrectal cancer patients with liver metastasis (target capture)

  15 Healthy controls, 25 conlonrectal cancer patients without liver metastasis and 24 conlonrectal cancer patients with liver metastasis (target capture)

  Dataset EGAD00001009838

• Metastatic breast cancer targeted gene screen (2014-09-24)

  The samples will be sequenced for a targeted panel of cancer relevant genes (n ~ 370) and analysed for somatic mutations. This dataset contains all the data available for this study on 2014-09-24

  Dataset EGAD00001001018

• 24 Chordoma samples (WES,WGS)

  Case series of the rare tumor entity chordoma. 9 cases sequenced with Whole Exome Sequencing (WES) and 2 cases sequenced with Whole Genome Sequencing (WGS) were recruited from the personalized oncology program NCT-MASTER/DKTK-MASTER at the German Cancer Research Center. One of the WES patients was re-sequenced at a later time point when he relapsed, this resequencing was done by WGS. Therefore there are 11 patients, one of which with two samples, all of which were sequenced with matched normal controls, amounting to a total number of 24 NGS samples.

  Dataset EGAD00001004825

• RNA sequencing data to study therapeutic targeting of ependymoma

  This dataset conatains RNA sequencing data from 24 patients. Up to two lanes per tumour sample have been seqeunced on a Illumina HiSeq2000 instrument in paired-end mode resulting in 58 Fastq files.

  Dataset EGAD00001003966

• Somatic mutations in epithelial cells from endometriosis and normal uterine endometrium

  Somatic mutations in epithelial cells from endometriosis and normal uterine endometrium, with a total of 24 samples. Target enrichment was conducted by Agilent SureSelect Human All Exon V5 + IncRNA kit. Sequencing was conducted by Illumina HiSeq 2500 platform. Somatic mutation call was performed by Strelka.

  Dataset EGAD00001004186

• Trynka_sceQTL_genotypes

  Blood samples were obtained from 119 healthy individuals of British ancestry. Genomic DNA was isolated from a suspension of PBMCs from each individual using a DNA isolation kit (Qiagen). Genotyping was then performed using the Infinium CoreExome-24 (v1.3) chip (Illumina).

  Dataset EGAD00010002291

• NICOLA QUB Genetic

  Blood-derived DNA was obtained from samples within the NICOLA cohort. Genetic data was generated using the Illumina Infinium CoreExome-24 array (Illumina, USA) and is available for 2,978 participants (551,839 directly genotyped and 18,148,478 imputed single nucleotide polymorphisms following initial quality control). Genetic .bed .bim and .fam files are available.

  Dataset EGAD00010002762

• Myeloma_Targeted_Follow_up_Study

  390 samples, perform WGA, and send the WGA’d DNA to core for pre-capture library and tagging, pulldown with ELID 631172 (16 samples per reaction tube), and sequencing (24 samples per lane)

  Study EGAS00001000880

• Characterization of iPSC derived macrophages - cardiovascular pilot (2017-05-24)

  This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-05-24.

  Dataset EGAD00001003347

• Genetic variability in exon 1 of the glucocorticoid receptor gene NR3C1 is associated with postoperative complications

  Bisulfite sequencing of a 3kb region within the CpG island of the NR3C1 exone 1 was performed with Illumina Miseq. 24 samples from major hepatic or pancreatic surgery with complications (cases) and without complications (controls). The files are in FASTQ format.

  Dataset EGAD00001008317

• Analysis of circulating miRNAs for the identification of new prognostic and predictive markers in gastro-entero-pancreatic neuroendocrine tumour (GEP-NET)

  NGS profiling of the entire miRNOme conducted on the plasma of 24 samples obtained from well-differentiated, advanced, metastatic and inoperable G1, G2 and G3 GEP-NET patients. Sequencing was performed on NexSeq platform

  Dataset EGAD00001010840

• RNA sequencing datasets from isolated human subcutaneous and visceral adipocytes from obese and lean people

  94 human adipocyte samples isolated from whole adipose tissues using collagenase digestion of tissue and flotation of lipid-laden adipocytes, followed by RNA isolation and RNA sequencing (SMARTer Stranded Total RNA-Seq library preparation, HiSeq 4000 100-bp paired-end reads). Adipocyte samples comprise subcutaneous and visceral adipocytes isolated from obese and lean people (N=24 obese-subcutaneous, N=24 obese-visceral, N=22 control-subcutaneous, N=24 control-visceral). Human adipocyte RNA sequencing data are provided as BAM files.

  Dataset EGAD00001010195

• Poland Lublin Voivodeship - WGS

  This project used NGS (next generation sequencing), using Illumina NOVASEQ 6000 and Illumina DRAGEN aligner. The dataset includes BAM and BAM.BAI files from Whole Genome Sequencing of 24 samples (14 female, 10 male of Lublin Voivodeship, Poland from POPULOUS collection). Library Construction Protocol: Illumina DNA PCR-Free Prep, Tagmentation. Reference Genome: GRCh37.

  Dataset EGAD50000000155

• Transcriptomic consequences of complex rearrangements inv8p23.1 and inv17q21.31 associated with Autism Spectrum Disorders

  We have performed an RNAseq analysis in order to elucidate the transcriptomic consequences of two complex rearrangements associated with Autism Spectrum Disorder, including patients and controls (total n=24).

  Study EGAS00001005612

• RNAseq in ASD patients and controls

  RNA sequences of a total of 24 samples, including 13 unrelated ASD patients (13 males) and 11 adult individuals of Spanish origin as controls (4 males, 7 females). The RNAseq study was conducted on a HiSeq 4000 (Illumina) and paired-end sequences were obtained (fastq files).

  Dataset EGAD00001008160

• Transcriptome sequencing of Gingivo-buccal Cancer - ICGC India Project YR03

  This dataset pertains to transcriptome sequencing of paired RNA samples.RNA was isolated from the tumor and adjacent normal tissues of 12 patients (24 samples). We have performed rRNA removal followed by total RNA sequencing in Illumina HiSeq platform.We have uploaded TopHat2 aligned BAM files.

  Dataset EGAD00001003981

• RRBS data of 48 individuals of the Dutch Hunger Winter Families Study

  The dataset entails 48 RRBS libraries of 24 siblings. 24 individuals are conceived during the Dutch Famine, a severe 6 month famine at the end of World War 2. A same sex sibling was added as a control, allowing partial matching for (early) familial environment and genetics.

  Dataset EGAD00001000733

• Contribution of systemic and somatic factors to clinical response and resistance in urothelial cancer: an exploratory multi-omic analysis

  Patients with metastatic urothelial cancer (n=29) were treated with atezolizumab (anti-PD-L1). All 29 patients had T-cell receptor sequencing (TCR-seq) of the pre-treatment blood; 24 also had TCR-seq on at least one post-treatment blood sample. 24 patients had TCR-seq of their pre-treatment tumors. TCR-seq data can be found at http://doi.org/10.5281/zenodo.546110. 26 patients also had RNAseq of their tumors and whole exome sequencing (WES) of their tumors and matched normal blood. WES results for one sample were excluded from our analysis after failing to meet coverage requirements.

  Study phs001743

• TARGET Trial Study Cohort

  In a randomized controlled clinical trial, investigators will compare the effects on [18F]-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET/CT) from two treatment regimens in rheumatoid arthritis (RA) patients deemed methotrexate inadequate responders (MTX-IRs). Two common RA treatments will be compared: triple therapy (sulfasalazine, methotrexate, and hydroxychloroquine) versus tumor necrosis factor (TNF) inhibitor (etanercept or adalimumab, plus background methotrexate for all subjects and hydroxychloroquine for subjects who were taking this at screening). Consenting subjects will be screened for eligibility and randomized to a treatment arm. Subjects will be randomized to a treatment arm with either synthetic disease-modifying antirheumatic drugs (DMARDs) [triple therapy: sulfasalazine, methotrexate, and hydroxychloroquine] or biologic DMARDs [etanercept or adalimumab, plus background methotrexate for all subjects and hydroxychloroquine for subjects who were taking this at screening]. Once randomized, a baseline visit will be conducted with each subject. Baseline data collection includes questionnaires, disease activity score, and the first FDG-PET/CT imaging. After the baseline at week 0, subjects will visit with their rheumatologist at weeks 6, 12, 18, and 24 for safety labs and further collection of disease activity scores and questionnaires. The second FDG-PET/CT will be performed at week 24. Blood specimens will be collected at weeks 0, 6, 18, and 24 for bioassays. Subject participation will end after the week 24 visit. Patients and care providers will be unblinded. The FDG-PET/CT image readers will be blinded to treatment arm as well as timepoint of image acquisition.

  Study phs003720

• EGAD00010000468

  Uveal melanoma matched Tumour and blood samples

  Dataset EGAD00010000468

• SNP_ARID1B

  SNP array ARID1B patients

  Dataset EGAD00010002556

• SNP array

  The whole study comprises of two patient cohorts. Screening cohort: 40 patients of Germany; validation cohort: 40 patients from Asia. Further, bile duct and CCA cell lines have been analyzed.
This dataset contains SNP array data for tumor/normal pairs for a subset of 36 patients from the screening cohort plus an additional relapse tumor of one of those 36 patients. Data was generated on a OmniExpress-24 v1.1 Bead Array (Illumina) and is stored in IDAT file format.

  Dataset EGAD00010002597

• WES of head and neck cancer patients refractory to anti-PD-1 therapy

  Whole exome sequencing (WES) was performed on baseline (before low-dose 5-aza treatment) blood and tumor paired samples from 12 participants with head and neck cancer who were refractory to anti-PD-1 therapy. DNA extractions were performed by the Broad Institute of MIT and Harvard using Qiagen AllPrep DNA/RNA kits (Cat. 80204). In total, 24 150-bp pair-end WES data were generated by Illumina.

  Dataset EGAD50000001011

• Transcriptomic dataset from a phase II study of pembrolizumab and epigenetic modification with azacitidine in platinum-resistant epithelial ovarian cancer

  This dataset includes sequence files from bulk RNA sequencing of tissue biospecimens from a phase II study investigating epigenetic priming followed by immune checkpoint blockade in platinum-resistant epithelial ovarian cancer (NCT02900560). There are 48 bulk RNA sequencing files from 24 specimens included in this dataset.

  Dataset EGAD50000001664

• RNAseq of human intestinal epithelial cell layers cultured in OGM, ENR, and ENRRT

  This dataset contains RNA sequencing data in fastq and bam format from 24 samples of human jejunum organoids grown in 3D configuration or as 2D monolayers on anodisc imaging chambers (AICs) in medium formulations OGM, ENR, and ENRRT. The RNA sequencing samples were sequenced using paired-end sequencing (2x150 bp) on an Illumina NovaSeq 6000 instrument at the SciLifeLab National Genomics Infrastructure (NGI) in Uppsala.

  Dataset EGAD50000001766

• Myeloma WGS

  Most patients with multiple myeloma (MM) die from progressive disease after relapse. To advance our understanding of MM evolution mechanisms, we performed whole-genome sequencing of 80 tumour-normal newly diagnosed pairs and 24 matched relapse tumours from the Myeloma XI trial.

  Study EGAS00001004000

• DNA methylation

  CASE AND CONTROL SAMPLES USING Infinium MethylationEPIC

  Dataset EGAD00010001805

• dataset_CML_WES_VCF

  dataset CML WES VCF

  Dataset EGAD00001002054

• RHD_FJ_HC24_Controls

  Healthy volunteers recruited in Fiji

  Dataset EGAD00010000959

• METH

  CpG methylation. Software: minimap2 v2.16;Nanopolish.

  Dataset EGAD00010002420

• dataset_CML_WES_pairend_bam

  dataset CML WES pairend bam

  Dataset EGAD00001002060

• dataset_CML_WES_pairend_fastq

  dataset CML WES pairend fastq

  Dataset EGAD00001002059

• Mechanism of Action of Vitamin E in NAFLD

  We conducted a single-center prospective mechanistic randomized trial (clinicaltrials.gov NCT01792115). Adult patients with NAFLD were enrolled between May 2013 and November 2016. All patients underwent a 12 weeks run-in period of lifestyle intervention. Following the run-in phase, patients underwent a baseline evaluation including blood tests, glucose tolerance testing, measurement of liver fat content by 1H-magnetic resonance spectroscopy (MRS) and a percutaneous liver biopsy. Patients with no evidence of NAFLD on the entry liver biopsy ended their participation in the study at that point. Patients with histological confirmation of NAFLD (either NAFL or NASH) on the baseline biopsy were randomized at a 1:1:1 ratio to receive one of 3 doses of natural vitamin E (RRR-alpha-tocopherol, Pharmavite), 200, 400 or 800 IU/d, for 24 weeks, and were followed at a 1-8 week intervals in a parallel assigned design. While on vitamin E treatment, patients were encouraged to continue and adhere to the lifestyle and dietary guidelines of the run-in phase. On week 4 of vitamin E treatment, a repeat MRS and liver biopsy were performed. On week 24, a final MRS was performed to assess treatment response. The primary endpoint was the reduction of liver fat content by MRS from baseline (immediately prior to starting vitamin E) to week 24 of treatment, and a response was defined as a relative reduction of ≥25% in liver fat content by MRS between baseline and week 24. Early changes in the hepatic transcriptome were investigated at week 4 comparing non-responders to responder in a nested design.

  Study phs001930

• RHD_NC_HC24_Controls

  Healthy volunteers recruited in New Caledonia

  Dataset EGAD00010000954

• HYDROXYMETH

  CpG hydroxymethylation. Software: minimap2 v.2.16; Megalodon.

  Dataset EGAD00010002418

• Genetics of 24 hour urine composition

  Genetic and environmental factors play an important role in the etiology of nephrolithiasis. This project will build on and extend our previous efforts (examining environmental risk factors for stone formation) by allowing us to study the risk of stone formation associated with specific genes and gene-environment interactions. We will take advantage of previously collected data in three large cohort studies: Nurses' Health Study I (n=121,000 women), Nurses' Health Study II (n=116,000 women), and Health Professionals Follow-up Study (n=51,000 men). Over a period of 17 to 26 years, information has been collected prospectively on important exposures including diet, family history, body size measures, past medical history, and medications. We have confirmed over 2000 incident cases of kidney stones in each cohort (DK59583, PI Curhan). Further, we have collected 24-hour urine samples from over 4100 stone formers and non-stone formers; the majority of participants have performed two collections. The primary objective of this project is to examine the association between single nucleotide polymorphisms and the 24-hour urinary excretion of stone promoters (calcium and oxalate) and a stone inhibitor (citrate). The secondary objective is to explore the impact of interactions between the genetic factors and dietary factors on 24-hour urinary excretion of relevant lithogenic factors. These findings should provide new insight into regulation of these important factors and also into novel approaches for prevention of stone formation.

  Study phs000460

• Breast implant-associated anaplastic large cell lymphoma shallow whole genome sequencing for copy number analysis and Whole exome sequencing data.

  Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) shallow whole genome sequencing of 29 BIA-ALCL patients for copy number analysis and 24 Alk-negative ALCL samples as control cohort. 7 Whole exome sequencing BIA-ALCL samples.

  Study EGAS00001003962

• RA-Map Early Rheumatoid Arthritis patient genotyping (InfiniumCoreExome-24-v1)

  Genotyping of 244 early RA patients and 44 vaccine recipient controls was performed using the Illumina InfiniumCoreExome-24-v1-1 according to the manufacturer’s SOP. Raw idats from the Illumina iScan instrument were imported into GenomeStudio (v2011.1). Samples < 90 % call rate were excluded. Data was exported to PLINK PED/MAP format on the forward strand. Data was converted from PED/MAP to BED/BIM/FAM using PLINK v1.07.

  Dataset EGAD00001006736

• Paired-WGS Sequencing of Primary lymphomas of the central nervous system (PCNSL)

  Paired WGS samples, 24 tumor/control pairs of primary CNS lymphoma, sequenced on HiSeq X Ten using Illumina TruSeq Nano DNA for library preparation.

  Dataset EGAD00001007810

• Targeted sequencing of cell-free DNA and white blood cells from 24 men with metastatic prostate cancer

  This dataset consists of aligned DNA sequencing data in BAM file format from cell-free DNA and white blood cells from 24 men with metastatic prostate cancer. One cell-free DNA sample and one white blood cell sample is available for each patient, resulting in 48 total BAM files in this dataset. The sequencing was performed using a hybrid capture-based targeted panel of 73 prostate cancer driver genes.

  Dataset EGAD00001004486

• Genomic Landscape of Chordoid Glioma

  Genomic Landscape of Chordoid Glioma

  Dataset EGAD00010001571

• Dataset of methylation data from eosinophil samples isolated from whole blood

  Dataset EGAD00010001594

• RHD_FJ_HC24_Cases

  Rheumatic heart disease cases recruited in Fiji

  Dataset EGAD00010000961

• GSA_2020_hg38

  Genopyting of 65 individuals using the Illumina Global Screening Array-24 v2

  Dataset EGAD00010002706

• GSA_2023_hg19

  Genopyting of 45 individuals using the Illumina Global Screening Array-24 v3

  Dataset EGAD00010002707

• GSA_2022_hg19

  Genopyting of 45 individuals using the Illumina Global Screening Array-24 v3

  Dataset EGAD00010002705

• RHD_NC_HC24_Cases

  Rheumatic heart disease cases recruited in New Caledonia

  Dataset EGAD00010000957

• Southeast_Borneo_730K

  Genotyping data from Southeast Borneo individuals

  Dataset EGAD00010000944

• Zephir trial gene expression

  Zephir trial gene expression

  Dataset EGAD50000000678

• DATA FILES FOR SJTALL

  DATA FILES FOR SJTALL

  Dataset EGAD00001001052

• Clinical and genetic analysis of a rare syndrome associated with neoteny

  Dataset EGAD00001003593

• SNParray_MOCOG

  Tumor and matched normal DNA profiling by SNP array

  Dataset EGAD00010002359

• WES of tumor samples from patients with renal medullary carcinoma (RMC)

  The dataset, in .bam file format, consists of whole exome sequencing (WES) data of tumors from patients (n=24) with Renal Medullary Carcinoma (RMC), generated using Illumina NovaSeq 6000 sequencing technology. DNA was extracted from FFPE solid tumor samples using the AllPrep DNA FFPE Kit (Qiagen, CA). Libraries from FFPE tissue were prepared with the SureSelect XT HS2 DNA Kit (Agilent, CA) for exome capture. The All Exon V7 exome probe set (Agilent, CA) was used for hybridization and capture of DNA.

  Dataset EGAD50000001822

• Whole exome sequencing of 76 individuals with familial atrial fibrillation

  We investigated genetic background of familial and early onset atrial fibrillation (AF) with the aim of identify genes involved in atrial fibrillation pathology and are highly predisposing risk factors. We performed whole exome sequencing on 24 families where three or more family members suffered from AF.

  Study EGAS00001003207