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webTWAS 2.0: update platform for identifying complex disease susceptibility genes through transcriptome-wide association study.
Nucleic Acids Res
January 2025
Yangtze Delta Region Institute (Quzhou), University of Electronic Science and Technology of China, 1 Chengdian Road, Quzhou, Zhejiang 324003, China.
Transcriptome-wide association study (TWAS) has successfully identified numerous complex disease susceptibility genes in the post-genome-wide association study (GWAS) era. Over the past 3 years, the focus of TWAS algorithms has shifted from merely identifying associations to understanding how single nucleotide polymorphisms (SNPs) regulate gene expression, with a growing emphasis on incorporating fine-mapping techniques. Additionally, the rapid increase in GWAS summary statistics, driven largely by the UK Biobank and other consortia, has made it essential to update our webTWAS resource.
View Article and Find Full Text PDFSuccessful modified CLEAN-NET with semicircular seromuscular layer incision for a gastric GIST near the cardia: a case report and video demonstration.
World J Surg Oncol
September 2024
Department of Surgery, Social Welfare Organization Saiseikai Imperial Gift Foundation, Inc., Saiseikai Kazo Hospital, 1680 Kamitakayanagi, Kazo-city, Saitama, 347-0101, Japan.
Background: The combination of laparoscopic and endoscopic approaches to neoplasia with a non-exposure technique (CLEAN-NET) is a laparoscopic and endoscopic cooperative surgery (LECS). It combines laparoscopic gastric resection and endoscopic techniques for local resection of gastric tumors, such as gastrointestinal stromal tumors (GIST), with minimal surgical margins. A conventional CLEAN-NET surgical procedure is complex, requiring careful techniques to preserve the cardia, particularly in case of nearby lesions.
View Article and Find Full Text PDFLack of Clinically Significant Relationships of Age or Body Mass Index with Merkel Cell Carcinoma Immunotherapy Outcomes.
Cancers (Basel)
July 2024
Department of Dermatology, University of Washington, Seattle, WA 98109, USA.
Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer with a high risk of metastasis. The development of anti-PD-1/PD-L1 immunotherapy has improved outcomes for advanced MCC, yet about 50% of such patients do not achieve durable responses. This study analyzed the effects of age and body mass index (BMI) on immunotherapy response in 183 advanced MCC patients from a single-center longitudinal database.
View Article and Find Full Text PDFGastritis cystica profunda in an unoperated stomach mimicking a pyloric submucosal tumor and causing anorexia: A case report and literature review.
Medicine (Baltimore)
March 2024
Department of Surgery, Social Welfare Organization Saiseikai Imperial Gift Foundation Inc., Saiseikai Kazo Hospital, Kazo, Japan.
Background: Gastritis cystica profunda (GCP), commonly observed in remnant gastric anastomosis, is associated with developing gastric cancer.
Case: This case report describes a patient with GCP in a previously unoperated stomach that mimicked a pyloric submucosal tumor and caused anorexia, which is rare in clinical practice.
Patient Concerns: A 72-year-old woman presented with loss of appetite and weight.
Conditional transcriptome-wide association study for fine-mapping candidate causal genes.
Nat Genet
February 2024
Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Transcriptome-wide association studies (TWASs) aim to integrate genome-wide association studies with expression-mapping studies to identify genes with genetically predicted expression (GReX) associated with a complex trait. In the present report, we develop a method, GIFT (gene-based integrative fine-mapping through conditional TWAS), that performs conditional TWAS analysis by explicitly controlling for GReX of all other genes residing in a local region to fine-map putatively causal genes. GIFT is frequentist in nature, explicitly models both expression correlation and cis-single nucleotide polymorphism linkage disequilibrium across multiple genes and uses a likelihood framework to account for expression prediction uncertainty.
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