14423 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

in 17.16 milliseconds.

• Chromatin accessibility analysis of epidermal keratinocytes from psoriatic, clinically healed, and healthy control skin

  This study uses ATAC-seq to analyze epidermal keratinocytes from psoriatic lesions, clinically healed skin of the same patients, and healthy control skin. The aim is to elucidate chromatin accessibility changes associated with psoriasis pathogenesis and remission from 6 lesional, 6 healed, and 5 control samples.

  Study JGAS000844

• Targeted gene expression analysis on FFPE specimen from NSCLC patients

  This study measured the expression of a panel of over 300 cancer immunotherapy-relavant genes in tumors after neoadjuvant chemoimmunotherapy. It was performed on RNA from FFPE tumor tissue. Differential gene expression analysis was performed between patients achieving or not achieving an event-free survival of 12 months.

  Study EGAS50000001140

• Genetic analysis in monozygotic twins discordant for bipolar disorder

  To identify genes relevant to bipolar disorder, an exome sequence analysis was conducted in 3 pairs of healthy monozygotic twins as control twins in this study. In addition to this data set, an exome sequence analysis was also conducted in several monozygotic twins discordant for bipolar disorder.

  Study JGAS000014

• Epigenome mapping in purified cells of the digestive and urogenital organs: Participation in International Human Epigenome Consortium (IHEC) (RNA-Seq)

  The aim of this study is to participate in International Human Epigenome Consortium (IHEC, http://ihec-epigenomes.org/), through disclosure of quality epigenome profiles of various normal cell lineages and diseased cells purified from surgically resected materials of multiple Japanese people.

  Study JGAS000028

• Targeted sequencing of vascular malformations tissues and paired blood samples

  In recent years, it has been clarified that various vascular malformations are caused by gene mutations. However, there remain vascular malformations of unknown etiology. In the present study, we investigated somatic mutations of three types of vascular malformations to identify novel gene mutations involved in their pathogenesis.

  Study JGAS000325

• Genetic and epigentic analysis of non-alcoholic fatty liver disease. Methylation analysis of nonalcoholic fatty liver.

  The aim of this study is to elucidate the mRNA expression related to the development and/or progression of non-alcoholic fatty liver disease. We performed genome-wide methylation analysis and determined the differentially methylated CpGs between mild and advanced nonalcoholic fatty liver disease.

  Study JGAS000059

• 16S metagenomics on NASH patients complicated with diabetes

  16S metagenomic analysis was performed on 20 NASH patients complicated with diabetes. Sum of the several Bacteroides species was smaller in the patients treated with insulin analogues than those who did not receive insulin treatment. The results were consistent with the study performed with model mice treated with insulin.

  Study JGAS000574

• Epigenome mapping in purified cells of the digestive and urogenital organs: Participation in International Human Epigenome Consortium (IHEC) (WGBS)

  The aim of this study is to participate in International Human Epigenome Consortium (IHEC, http://ihec-epigenomes.org/), through disclosure of quality epigenome profiles of various normal cell lineages and diseased cells purified from surgically resected materials of multiple Japanese people.

  Study JGAS000026

• Epigenome mapping in purified cells of the digestive and urogenital organs: Participation in International Human Epigenome Consortium (IHEC) (ChIP-seq)

  The aim of this study is to participate in International Human Epigenome Consortium (IHEC, http://ihec-epigenomes.org/), through disclosure of quality epigenome profiles of various normal cell lineages and diseased cells purified from surgically resected materials of multiple Japanese people.

  Study JGAS000027

• A clinically and genomically annotated Early onset colorectal cancer and late onset colorectal cancer

  This study aimed to identify genomic characteristics of early-onset colorectal cancer (EOCRC) compared to late-onset cases. Whole-genome sequencing (WGS) was performed on EOCRC and late-onset colorectal cancer (LOCRC) tissues and blood samples to analyze their genomic profiles.

  Study EGAS50000000544

• Whole-Exome Sequencing in Mexican Patients with Testicular Germ Cell Tumors

  In this study, we performed whole-exome sequencing in 40 clinically well-characterized Mexican patients with testicular germ cell tumors. Paired tumor and peripheral blood samples were analyzed to characterize the genomic landscape, including both single nucleotide variants (SNVs) and copy number variations (CNVs).

  Study EGAS50000001721

• RRBS data from TRACERx non-small cell lung cancer (NSCLC) tumours and matched normal adjacent tissue.

  TRACERx (TRAcking Cancer Evolution through therapy (Rx)) is a prospective cohort study designed to investigate intratumor heterogeneity (ITH) in relation to clinical outcome, and to determine the clonal nature of driver events and evolutionary processes in early stage non-small cell lung cancer (NSCLC).

  Study EGAS00001008071

• HipSci_RNASEQ_PID

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Platelet and bleeding disorders patients

  Study EGAS00001001990

• Assessment of genomic copy number alterations in breast cancer

  The aim of this study was to assess genomic copy number alterations in a panel of breast cancer cell lines. These data were used to identify common aberrations associated with breast cancer, and also to identify aberrations associated with response to therapeutic compounds.

  Study EGAS00001000585

• Whole_Genome_Sequencing_of_INTERVAL

  15x Whole Genome Sequencing of 15,000 individuals from the INTERVAL study cohort, phase II. 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/

  Study EGAS00001002461

• H3K27ac and RNA-seq data of neuroblastoma PDXs and/or primary tumors

  This study includes H3K27ac ChIP-seq and RNA-seq data of 6 neuroblastoma PDXs. It also contains RNA-seq data of 3 pairs of neuroblastoma tumors obtained at diagnosis and relapse. The MAP-GR-B25-NB-1 PDX was derived from the relapse of pair 1.

  Study EGAS00001002505

• Whole_Genome_Sequencing_of_INTERVAL

  15x Whole Genome Sequencing of 15,000 individuals from the INTERVAL study cohort, phase III. 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/

  Study EGAS00001002787

• Genomic analysis of Japanese gastric cancer (345 gastric cancers of NCC)

  As a contribution to the International Cancer Genome Consortium, whole exome sequencing of 345 Japanese gastric cancer (345 gastric cancers of NCC) with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer.

  Study EGAS00001002884

• High-resolution analyses of human sperm dynamic methylome reveals thousands of novel age-related epigenetic alterations

  Age-dependent modifications of the germ cells epigenome remain poorly understood. Our objective was to assess the DNA methylation profile of human spermatozoa during aging. A cohort study was designed to investigate the effects of age and fertility status on sperm DNA methylation.

  Study EGAS00001004168

• Signatures of Aristolochic Acid Mutagenesis in Bladder Cancer

  This study looks at signatures of Aristolochic Acid mutagenesis in bladder cancer, based on exome and whole genome sequencing data. Thirteen bladder tumors and their matched normal DNAs were sequenced on Illumina platforms. Among them eleven were exome sequenced and two were whole genome sequenced.

  Study EGAS00001000975

• MDS Sequencing Project_Cancer Cell

  Myelodysplastic syndromes (MDS) are uncommon entities, heterogeneous clinically and cytogenetically. The aim of the present study is to determine genetic alteration in this subset of patients. Expected results: Identification of new aberrations and genetic markers in order to detect novel genes involved in MDS 5q-response to Lenalidomide's treatment.

  Study EGAS00001001011

• RNA-sequencing of adult T-cell leukemia/lymphoma samples

  Adult T-cell leukemia/lymphoma (ATL) is a highly aggressive hematological malignancy derived from mature CD4+ T-lymphocytes. In this study, we performed RNA-sequencing (RNA-seq) analysis for ATL samples including 9 primary tumors and 1 ATL cell line to clarify gene expression profiles in this disease.

  Study EGAS00001003575

• HipSci_RNASEQ_Usher syndrome and congenital eye defects

  The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Usher syndrome and congenital eye defects.

  Study EGAS00001001997

• Melanoma_brain_metastases

  This is a whole exome study of brain metastases in melanoma. We are studying the genomic evolution of primary cutaneous melanoma to brain met in patients with brain-only metastatic disease. We are also looking at the genomic heterogeneity in patients with temporally, anatomically and regionally separated brian metastases.

  Study EGAS00001002107

• WES of melanoma tumors treated with combined immune checkpoint blockade

  This study of pre-treatment melanoma tumor samples from patients subsequently treated with combined anti-CTLA-4 and anti-PD-1 checkpoint blockade sought to identify genomic biomarkers of response to therapy. A total of 26 tumor and matched normal samples underwent whole exome sequencing.

  Study EGAS00001003857