Motivation: We present a Web service to access Ensembl data using Representational State Transfer (REST). The Ensembl REST server enables the easy retrieval of a wide range of Ensembl data by most programming languages, using standard formats such as JSON and FASTA while minimizing client work. We also introduce bindings to the popular Ensembl Variant Effect Predictor tool permitting large-scale programmatic variant analysis independent of any specific programming language.
Availability And Implementation: The Ensembl REST API can be accessed at http://rest.ensembl.org and source code is freely available under an Apache 2.0 license from http://github.com/Ensembl/ensembl-rest.
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http://dx.doi.org/10.1093/bioinformatics/btu613 | DOI Listing |
Nucleic Acids Res
January 2025
Department of Computer Science, Faculté des sciences, Université de Sherbrooke, 2500 Boulevard de l'Université, Sherbrooke, QC J1K 2R1, Canada.
Eukaryotic genes can encode multiple distinct transcripts through the alternative splicing (AS) of genes. Interest in the AS mechanism and its evolution across different species has stimulated numerous studies, leading to several databases that provide information on AS and transcriptome data across multiple eukaryotic species. However, existing resources do not offer information on transcript conservation and evolution between genes of multiple species.
View Article and Find Full Text PDFPeerJ Comput Sci
April 2023
Departamento de Ingeniería Informática, Universidad de Burgos, Burgos, Spain.
Recognizing transcription start sites is key to gene identification. Several approaches have been employed in related problems such as detecting translation initiation sites or promoters, many of the most recent ones based on machine learning. Deep learning methods have been proven to be exceptionally effective for this task, but their use in transcription start site identification has not yet been explored in depth.
View Article and Find Full Text PDFSci Rep
March 2022
Department of Genetics and Biotechnology, University College of Science, Osmania University, Hyderabad, 500007, Telangana State, India.
J Clin Exp Dent
October 2021
Oral and Maxillofacial Unit, Virgen del Rocio Hospital, Seville, Spain. Oral Surgery Department, Dentistry Faculty, University of Seville, Seville, Spain.
Background: Cancer is a genetic disease caused by mutations in DNA and epigenetic alterations that control gene expression. The majority of epidermoid carcinomas develop within the fields of epithelial genetic alterations. The mechanisms underlying tumorigenesis of epidermoid carcinoma are as yet unknown; therefore, precise identification of the risk factors is needed.
View Article and Find Full Text PDFFront Genet
April 2021
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.
Genome assembly is cheaper, more accurate and more automated than it has ever been. This is due to a combination of more cost-efficient chemistries, new sequencing technologies and better algorithms. The livestock community has been at the forefront of this new wave of genome assembly, generating some of the highest quality vertebrate genome sequences.
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