CancerEnD is an integrated resource developed for annotating 8524 unique expressed enhancers, associated genes, somatic mutations and copy number variations of 8063 cancer samples from 18 cancer types of TCGA. Somatic mutation data was taken from the COSMIC repository. To delineate the relationship of change in copy number of enhancer elements with the prognosis of cancer patients, survival analysis was done using the survival package in R. We identified 1762 overall survival associated enhancers, which can be used for prognostic purposes of cancer patients in a tissue-specific manner. CancerEnD (https://webs.iiitd.edu.in/raghava/cancerend/) is developed on a user-friendly responsive template, that enables searching, browsing and downloading of the annotated enhancer elements in terms of gene expression, copy number variation and survival association. We hope it provides a promising avenue for researchers to facilitate the understanding of enhancer deregulation in tumorigenesis, and to identify new biomarkers for therapy and disease-diagnosis.
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http://dx.doi.org/10.1016/j.ygeno.2020.04.028 | DOI Listing |
Brief Bioinform
November 2024
Department of Biology, University of Padova, Via U.Bassi 58/ B, 35131, Italy.
Shallow whole-genome sequencing (sWGS) offers a cost-effective approach to detect copy number alterations (CNAs). However, there remains a gap for a standardized workflow specifically designed for sWGS analysis. To address this need, in this work we present SAMURAI, a bioinformatics pipeline specifically designed for analyzing CNAs from sWGS data in a standardized and reproducible manner.
View Article and Find Full Text PDFCancer Res
January 2025
University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Cancer genomics consortia have identified somatic drivers of breast cancer subtypes. However, these studies have predominantly included older, non-Black women, and the related socioeconomic status (SES) data is limited. Increased representation and depth of social data are crucial for understanding how health inequity is intertwined with somatic landscapes.
View Article and Find Full Text PDFEpilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Int J Gynecol Cancer
January 2025
Fudan University Shanghai Cancer Center, Department of Gynecologic Oncology, Shanghai, China; Fudan University, Shanghai Medical College, Department of Oncology, Shanghai, China. Electronic address:
Objective: Homologous recombination deficiency assays, guiding treatment of poly (adenosine diphosphate ribose) polymerase inhibitors, are increasingly applied in clinics. This study aimed to evaluate the predictive performance of homologous recombination deficiency status at genomic and functional perspective on the efficacy of platinum-based chemotherapy in ovarian cancer.
Methods: Between 2016 and 2019, 134 patients with high-grade ovarian cancer were retrospectively analyzed.
Front Immunol
January 2025
Department of Hematology, The Sixth Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
CD7-targeted chimeric antigen receptor-T (CAR-T) cell therapy has shown great promise in the treatment of relapsed/refractory T-cell acute lymphoblastic leukemia (T-ALL). In this study, we reported a case of a 34-year-old male patient with T-ALL who finally developed multi-line drug resistance and refractoriness after multiple lines of high-intensity chemotherapy. After physician evaluation, this patient received allogeneic hematopoietic stem cell transplantation (allo-HSCT).
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