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| http://dx.doi.org/10.1007/s10815-017-1075-3 | DOI Listing |
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The integration of conventional omics data such as genomics and transcriptomics data into artificial intelligence models has advanced significantly in recent years; however, their low applicability in clinical contexts, due to the high complexity of models, has been limited in their direct use inpatients. We integrated classic omics, including DNA mutation and RNA gene expression, added a novel focus on promising omics methods based on A>I(G) RNA editing, and developed a drug response prediction model. We analyzed 104 patients from the Breast Cancer Genome-Guided Therapy Study (NCT02022202).
View Article and Find Full Text PDFSomatic mutations in individual cells lead to genomic mosaicism, contributing to the intricate regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection of somatic mosaicism across different technologies with personalized donor-specific assembly (DSA), we obtained tissue from the dorsolateral prefrontal cortex (DLPFC) of a post-mortem neurotypical 31-year-old individual. We sequenced bulk DLPFC tissue using Oxford Nanopore Technologies (∼60X), NovaSeq (∼30X), and linked-read sequencing (∼28X).
View Article and Find Full Text PDFBackground: Germline haplodeficiency (RHD) is associated with thrombocytopenia, platelet dysfunction and predisposition to myeloid malignancies. Platelet expression profiling of a RHD patient showed decreased encoding for the A subunit of factor XIII, a transglutaminase that cross-links fibrin and induces clot stabilization. FXIII-A is synthesized by hematopoietic cells, megakaryocytes and monocytes.
View Article and Find Full Text PDFAdaptive Significance of Non-coding RNAs: Insights from Cancer Biology.
Mol Biol Evol
January 2025
Professor Emeritus, School of Biological Sciences, Integrated Cancer Research Center, Georgia Institute of Technology, Atlanta, GA, USA.
The molecular basis of adaptive evolution and cancer progression are both complex processes that share many striking similarities. The potential adaptive significance of environmentally-induced epigenetic changes is currently an area of great interest in both evolutionary and cancer biology. In the field of cancer biology intense effort has been focused on the contribution of stress-induced non-coding RNAs (ncRNAs) in the activation of epigenetic changes associated with elevated mutation rates and the acquisition of environmentally adaptive traits.
View Article and Find Full Text PDFBarriers to early detection: Insurance denials for breast MRI screening in women with germline BRCA1/2 mutations.
Gynecol Oncol
January 2025
New York University Langone Health, Long Island, Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Mineola, NY, United States of America. Electronic address:
Objectives: Women with germline BRCA1/2 pathogenic variants (gBRCA1/2) are recommended to undergo annual breast MRI and mammography. Our objective was to describe the frequency of insurance denials for annual breast MRIs in women with gBRCA1/2 and determine denial trends.
Methods: Women with gBRCA1/2 following in a high-risk breast cancer clinic with breast MRIs ordered from 2020 to 2021 were identified and cross-referenced with a database of insurance denials.
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