14459 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• Triple_Negative_Breast_Cancer_Whole_Genome_Validations

  We propose to definitively characterise the somatic genetics of Triple negative breast cancer through generation of comprehensive catalogues of somatic mutations in 500 cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses. This study will use a bespoke bait set to pulldown regions of interest found in whole genome sequencing to validate mutations found.

  Study EGAS00001000426

• Osteosarcoma_Targeted_Sequencing_Study

  This Study uses a focused bespoke bait pull down library method to target findings of Osteosarcoma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

  Study EGAS00001000278

• Meningioma_Targeted_Sequencing_Study

  This Study uses a focused bespoke bait pull down library method to target findings of Meningioma whole genome and whole exome sequencing studies in order to validate findings. This method will also be used on a larger set of tumour only samples in order to find precedence of these findings in a larger set of patient samples.

  Study EGAS00001000282

• Mutator phenotype and specific mutational signature explain an increased risk of hematological malignancies in patients with Xeroderma Pigmentosum

  In this study we report for the first time the unique collection of 6 leukemias and two sarcomas from XP-C. Comprehensive WGS-based mutational analysis provides genetic explanation for the increased incidence of leukemia in XP-C and describes an unique mutational process in internal tumors associated with NER deficiency.

  Study EGAS00001004511

• Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M-mutant pediatric high-grade gliomas

  Genome-wide analysis of H3K27me3 occupancy and DNA methylation in K27M-mutant and H3.3-WT primary pediatric high-grade gliomas (pHGGs) as well as pediatric pHGG cell lines. The study aims to elucidate the connection between K27M-induced H3K27me3 reduction and changes in DNA methylation as well as gene expression.

  Study EGAS00001000578

• 16S-based fecal microbiota composition of the Milieu Intérieur Cohort

  The Milieu Intérieur project is a population-based study coordinated by the Institut Pasteur, Paris. The objective is to dissect the interplay between genetics and environment and their impact on the immune system. One of the primary goals of the project is to ascertain the role of the microbiota in regulating immune programs.

  Study EGAS00001003419

• Exome sequencing of stroke cases with good or bad recovery three months after stroke

  With the aim to identify rare genetic variation involved in stroke recovery, this is a pilot study on extreme phenotypes of good and bad recovery. Exome sequencing was performed on 41 and 49 samples in the bad and good recovery subset, respectively. Rare Variant association Analysis was performed on the exome sequencing results.

  Study EGAS00001003463

• 2014 chunnam AML analysis

  2014 AML analysis is conducted with samples collected from Chunnam universty. 67 paired samples are belong to this project. The study was designed to examine the molecular abnormalities from leukemic patients at initial diagnosis in comparison with corresponding germ line control (saliva samples). The results of WXS were analyzed by Mutect for ranking cancer variants and creating mutational matrix.

  Study EGAS00001001082

• International Genetics of Parkinson Disease Progression (IGPP) Consortium GWAS Summary Results

  To characterize how genetic variation influences the progression of Parkinson’s disease to dementia, which is a major determinant for quality of life, we performed a longitudinal genome-wide survival study (GWSS). Risk profile analysis was performed with a novel polygenic hazard score in longitudinal cohorts in the International Genetics of Parkinson Disease Progression (IGPP) Consortium.

  Study EGAS00001005110

• Exome sequencing of 102 gastric cancer and matched normal from Japanese cohorts (YCU)

  As a contribution to the International Cancer Genome Consortium, exome sequencing of 102 Japanese gastric cancer with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer. Please refer ICGC website for detail: http://icgc.org/icgc/cgp/69/420/1012357

  Study EGAS00001002892