Background: The University of California, Santa Cruz (UCSC) genome database is among the most used sources of genomic annotation in human and other organisms. The database offers an excellent web-based graphical user interface (the UCSC genome browser) and several means for programmatic queries. A simple application programming interface (API) in a scripting language aimed at the biologist was however not yet available. Here, we present the Ruby UCSC API, a library to access the UCSC genome database using Ruby.
Results: The API is designed as a BioRuby plug-in and built on the ActiveRecord 3 framework for the object-relational mapping, making writing SQL statements unnecessary. The current version of the API supports databases of all organisms in the UCSC genome database including human, mammals, vertebrates, deuterostomes, insects, nematodes, and yeast.The API uses the bin index-if available-when querying for genomic intervals. The API also supports genomic sequence queries using locally downloaded *.2bit files that are not stored in the official MySQL database. The API is implemented in pure Ruby and is therefore available in different environments and with different Ruby interpreters (including JRuby).
Conclusions: Assisted by the straightforward object-oriented design of Ruby and ActiveRecord, the Ruby UCSC API will facilitate biologists to query the UCSC genome database programmatically. The API is available through the RubyGem system. Source code and documentation are available at https://github.com/misshie/bioruby-ucsc-api/ under the Ruby license. Feedback and help is provided via the website at http://rubyucscapi.userecho.com/.
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http://dx.doi.org/10.1186/1471-2105-13-240 | DOI Listing |
Onco Targets Ther
January 2025
Department of Gynecology, Sichuan Provincial Hospital of Traditional Chinese Medicine, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People's Republic of China.
Background: Soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE)-mediated membrane fusion is crucial for autophagy, making YKT6, a key modulator of cell membrane fusion, a potential target for cancer therapy. However, its oncogenic role across different cancers remains unclear. This study was to investigate the prognostic value and potential immunological functions of YKT6, including cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC).
View Article and Find Full Text PDFProtein Pept Lett
January 2025
Scientific Research Center, Beijing ChosenMed Clinical Laboratory Co., Ltd. 101, 1F, Building 3, No.156 Jinghai 4th Road, Beijing Economic and Technological Development Zone, Beijing, 100176, China.
Background: The role of ZNF165 in only a few tumors has been reported. ZNF165 plays an important role in liver cancer, gastric cancer, and breast cancer, especially in regulating the immune microenvironment, promoting tumor cell proliferation and migration, and serving as a potential target for immunotherapy.
Objective: This study aimed to enhance an understanding of how the ZNF165 gene functions and influences cancer development.
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFJ Gastrointest Oncol
December 2024
Department of Cancer Center, Daping Hospital, Army Medical University, Chongqing, China.
Background: Esophageal squamous cell carcinoma (ESCC) is a highly prevalent and malignant form of esophageal tumor associated with high rates of patient mortality for which there remains a persistent lack of effective targets for therapeutic interventional efforts. This study was developed with the goal of exploring the expression and functional role of RBM15 in ESCC.
Methods: This study was developed with the goal of exploring the expression and functional role of RBM15 in ESCC.
Discov Oncol
December 2024
The First Affiliated Hospital of Nanchang University, Nanchang University, 17 Yongwai Zhengjie, Donghu District, Nanchang, 330006, People's Republic of China.
Objective: It has been shown that the CYFIP2 (Cytoplasmic FMR1-interacting protein 2) gene is apoptosis p53-dependent and is associated with poor prognosis in malignant tumors such as gastric cancer and other and cervical cancer. However, the prognostic potential of CYFIP2 in pancreatic cancer remains unclear. In this work, we first explain the great potential of CYFIP2 malignant progression from a broader perspective (pan-cancer) and confirm its oncogenic value in pancreatic cancer.
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