J

José G Pérez-Silva

European Bioinformatics Institute

ORCID: 0000-0003-4421-3676

Publishes on Genomics and Phylogenetic Studies, Genetic Mapping and Diversity in Plants and Animals, Molecular Biology Techniques and Applications. 16 papers and 5k citations.

16Publications
5kTotal Citations

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Top publicationsby citations

Ensembl 2022
Fiona Cunningham, James E. Allen, Jamie Allen et al.|Nucleic Acids Research|2021
Cited by 2.2kOpen Access

Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive annotation for key species. Genomes representing a greater diversity of species are increasingly being sequenced. In response, we have focussed our recent efforts on expediting the annotation of new assemblies. Here, we report the release of the greatest annual number of newly annotated genomes in the history of Ensembl via our dedicated Ensembl Rapid Release platform (http://rapid.ensembl.org). We have also developed a new method to generate comparative analyses at scale for these assemblies and, for the first time, we have annotated non-vertebrate eukaryotes. Meanwhile, we continually improve, extend and update the annotation for our high-value reference vertebrate genomes and report the details here. We have a range of specific software tools for specific tasks, such as the Ensembl Variant Effect Predictor (VEP) and the newly developed interface for the Variant Recoder. All Ensembl data, software and tools are freely available for download and are accessible programmatically.

Ensembl 2023
Fergal J. Martin, M Ridwan Amode, Alisha Aneja et al.|Nucleic Acids Research|2022
Cited by 1.1kOpen Access

Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly available genome data and the downstream research and applications that utilise the Ensembl platform. In recent years we have witnessed a dramatic shift in the genomic landscape. There has been a large increase in the number of high-quality reference genomes through global biodiversity initiatives. In parallel, there have been major advances towards pangenome representations of higher species, where many alternative genome assemblies representing different breeds, cultivars, strains and haplotypes are now available. In order to support these efforts and accelerate downstream research, it is our goal at Ensembl to create high-quality annotations, tools and services for species across the tree of life. Here, we report our resources for popular reference genomes, the dramatic growth of our annotations (including haplotypes from the first human pangenome graphs), updates to the Ensembl Variant Effect Predictor (VEP), interactive protein structure predictions from AlphaFold DB, and the beta release of our new website.

Ensembl 2024
Cited by 714Open Access

Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades. In recent years, there has been a dramatic shift in the genomic landscape, with a large increase in the number and phylogenetic breadth of high-quality reference genomes, alongside major advances in the pan-genome representations of higher species. In order to support these efforts and accelerate downstream research, Ensembl continues to focus on scaling for the rapid annotation of new genome assemblies, developing new methods for comparative analysis, and expanding the depth and quality of our genome annotations. This year we have continued our expansion to support global biodiversity research, doubling the number of annotated genomes we support on our Rapid Release site to over 1700, driven by our close collaboration with biodiversity projects such as Darwin Tree of Life. We have also strengthened support for key agricultural species, including the first regulatory builds for farmed animals, and have updated key tools and resources that support the global scientific community, notably the Ensembl Variant Effect Predictor. Ensembl data, software, and tools are freely available.

Ensembl 2025
Sarah Dyer, Olanrewaju Austine-Orimoloye, Andrey G Azov et al.|Nucleic Acids Research|2024
Cited by 518Open Access

Ensembl (www.ensembl.org) is an open platform integrating publicly available genomics data across the tree of life with a focus on eukaryotic species related to human health, agriculture and biodiversity. This year has seen a continued expansion in the number of species represented, with >4800 eukaryotic and >31 300 prokaryotic genomes available. The new Ensembl site, currently in beta, has continued to develop, currently holding >2700 eukaryotic genome assemblies. The new site provides genome, gene, transcript, homology and variation views, and will replace the current Rapid Release site; this represents a key step towards provision of a single integrated Ensembl site. Additional activities have included developing improved regulatory annotation for human, mouse and agricultural species, and expanding the Ensembl Variant Effect Predictor tool. To learn more about Ensembl, help and documentation are available along with an extensive training program that can be accessed via our training pages.

nVenn: generalized, quasi-proportional Venn and Euler diagrams
Cited by 162Open Access

Motivation: Venn and Euler diagrams are extensively used for the visualization of relationships between experiments and datasets. However, representing more than three datasets while keeping the proportions of each region is still not feasible with existing tools. Results: We present an algorithm to render all the regions of a generalized n-dimensional Venn diagram, while keeping the area of each region approximately proportional to the number of elements included. In addition, missing regions in Euler diagrams lead to simplified representations. The algorithm generates an n-dimensional Venn diagram and inserts circles of given areas in each region. Then, the diagram is rearranged with a dynamic, self-correcting simulation in which each set border is contracted until it contacts the circles inside. This algorithm is implemented in a C++ tool (nVenn) with or without a web interface. The web interface also provides the ability to analyze the regions of the diagram. Availability and implementation: The source code and pre-compiled binaries of nVenn are available at https://github.com/vqf/nVenn. A web interface for up to six sets can be accessed at http://degradome.uniovi.es/cgi-bin/nVenn/nvenn.cgi. Supplementary information: Supplementary data are available at Bioinformatics online.