4002 results for "*geneti*"

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• McGill Cancer Genetics Predisposition Data Access Committee

  Dac EGAC50000000954

• Androgen activity in the normal male embryonic hindbrain drives lethal PFA ependymoma

  PFA ependymoma is an unusual infantile brain tumor with few somatic mutations, thought to be driven by epigenetic mechanisms. PFA ependymomas have a markedly higher incidence, and a worse prognosis in males as compared to female infants. Here we show that the cellular hierarchy of male PFA is less differentiated than female PFA. Androgen supplementation promotes the growth of PFA ependymoma. We conclude that androgen signaling in both the normal developing hindbrain, and PFA ependymoma are both necessary and sufficient to promote growth and delay differentiation.

  Study EGAS50000000507

• DAC for "H3K27me3-mediated epigenetic repression regulates neuroblastoma development and contributes to biological heterogeneity"

  Dac EGAC00001003620

• Target bisulfite sequencing of endometrial cancer

  This study aims to investigate epigenetic alterations in the HLA-A locus in endometrial cancer. Targeted bisulfite sequencing was performed to evaluate DNA methylation status of the HLA-A region in a cohort of endometrial cancer samples. The resulting data were used to assess the association between HLA-A methylation and tumor immune microenvironment. These findings contribute to understanding the role of epigenetic regulation of antigen presentation in endometrial cancer.

  Study JGAS000897

• Genetic variants associated with paroxysmal atrial fibrillation in the Japanese population

  Paroxysmal atrial fibrillation (PAF) is often asymptomatic, making early-stage diagnosis difficult using routine clinical examinations alone. The genetic factors underlying PAF and the predictive utility of polygenic risk scores (PRSs) for PAF in Asian populations remain insufficiently understood. In this study, we aim to explore genetic variants associated with PAF in a Japanese cohort and to evaluate the predictive performance of PAF-specific PRSs. We analyze Japanese participants genotyped with the Illumina Infinium Asian Screening Array and perform a genome-wide association study (GWAS) after sample and variant quality control and genotype imputation based on the GRCh37 reference genome. Using the GWAS results, we construct multiple PRS models and assess their predictive ability both alone and in combination with clinical risk factors. These efforts are intended to provide a basis for personalized prevention and early detection strategies for PAF in the Japanese population.

  Study JGAS000866

• Bulk ATAC-Seq on sorted cord blood hematopoietic populations

  Study EGAS00001004742

• Carbamazepine-induced hypersensitivity reactions in Europeans

  An antiepileptic drug carbamazepine is well tolerated by the majority of patients, but can cause severe and potentialy fatal hypersensitivity reactions in a small number of individuals. The aim of this study was to identify genetic predictors of hypersensitivity reactions to carbamazepine. We undertook a genome-wide association study (GWAS) in 22 patients of European ancestry with carbamazepine-induced hypersensitivity syndrome (HSS) and compared our data with genotypes from a healthy population within the WTCCC. We performed imputation of classical HLA alleles according to a recently described method (Science. 2010 Dec 10;330(6010):1551-7. Epub 2010 Nov 4). GWAS statistical analysis was performed using logistic regression with an additive model of inheritance.

  Study EGAS00000000037

• Fluctuating DNA methylation tracks cancer evolution at clinical scale

  Long-read Nanopore data of fCpGs from Gabbutt & Duran-Ferrer (2025) for developing the EVOFLUx method to study cancer evolution via DNA methylation fluctuations.

  Study EGAS50000001192

• The Genetic Analysis of multiple sclerosis

  We created these data in order to identify genetic variants associated with increased susceptibility to multiple sclerosis. Cases from many parts of the world were genotyped with the Illumina 660 chip along with Swedish controls. In our analysis we also used control data from the WTCCC2 common UK controls and from other published studies.

  Study EGAS00000000101

• Genetic landscape of pediatric ETV6-RUNX1 acute lymphoblastic leukemia

  Abstract in preparation

  Study EGAS00001001315