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Inferring the genetic relationships between unsupervised deep learning-derived imaging phenotypes and glioblastoma through multi-omics approaches.
Brief Bioinform
November 2024
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
This study aimed to investigate the genetic association between glioblastoma (GBM) and unsupervised deep learning-derived imaging phenotypes (UDIPs). We employed a combination of genome-wide association study (GWAS) data, single-nucleus RNA sequencing (snRNA-seq), and scPagwas (pathway-based polygenic regression framework) methods to explore the genetic links between UDIPs and GBM. Two-sample Mendelian randomization analyses were conducted to identify causal relationships between UDIPs and GBM.
View Article and Find Full Text PDFSAMURAI: shallow analysis of copy number alterations using a reproducible and integrated bioinformatics pipeline.
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 PDFHeterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder.
PLoS One
January 2025
Department of Psychiatry, University of California San Diego, La Jolla, CA, United States of America.
Background: Bipolar Disorder (BD) is a complex disease. It is heterogeneous, both at the phenotypic and genetic level, although the extent and impact of this heterogeneity is not fully understood. One way to assess this heterogeneity is to look for patterns in the subphenotype data.
View Article and Find Full Text PDFThe genetic architecture of resistance to flubendiamide insecticide in Helicoverpa armigera (Hübner).
PLoS One
January 2025
Department of Entomology and Acarology, Luiz de Queiroz College of Agriculture (ESALQ), University of São Paulo (USP), Piracicaba, São Paulo, Brazil.
Insecticide resistance is a major problem in food production, environmental sustainability, and human health. The cotton bollworm Helicoverpa armigera is a globally distributed crop pest affecting over 300 crop species. H.
View Article and Find Full Text PDFAssociation of ESR1 Polymorphisms with Susceptibility to Migraine: A Meta-Analysis and Trial Sequential Analysis.
Curr Pain Headache Rep
January 2025
ImmGen EvSys Lab, BT-113 Department of Biotechnology, Berhampur University, Bhanja Bihar Berhampur, Berhampur, 760007, Odisha, India.
Background: Migraine is a highly prevalent and incapacitating neurological disorder mostly characterised by recurring attacks of moderate to severe throbbing and pulsating pain on one side of the head. The role of estrogen in migraine has been well documented. Although genetic variations in the ESR1 gene have been associated with an increased risk of developing migraine, the findings are inconsistent.
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