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Bethan Pritchard

Wellcome Sanger Institute

Publishes on Genomics and Phylogenetic Studies, Epigenetics and DNA Methylation, Mycotoxins in Agriculture and Food. 14 papers and 8.3k citations.

14Publications
8.3kTotal Citations

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Top publicationsby citations

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren, Bethan Pritchard, Daniel Ríos et al.|Bioinformatics|2010
Cited by 1.7kOpen Access

Abstract Summary: A tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. In Ensembl, a web-based tool (the SNP Effect Predictor) and API interface can now functionally annotate variants in all Ensembl and Ensembl Genomes supported species. Availability: The Ensembl SNP Effect Predictor can be accessed via the Ensembl website at http://www.ensembl.org/. The Ensembl API (http://www.ensembl.org/info/docs/api/api_installation.html for installation instructions) is open source software. Contact: wm2@ebi.ac.uk; fiona@ebi.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.

Ensembl 2014
Paul Flicek, M Ridwan Amode, Daniel Barrell et al.|Nucleic Acids Research|2013
Cited by 1.3kOpen Access

Ensembl (http://www.ensembl.org) creates tools and data resources to facilitate genomic analysis in chordate species with an emphasis on human, major vertebrate model organisms and farm animals. Over the past year we have increased the number of species that we support to 77 and expanded our genome browser with a new scrollable overview and improved variation and phenotype views. We also report updates to our core datasets and improvements to our gene homology relationships from the addition of new species. Our REST service has been extended with additional support for comparative genomics and ontology information. Finally, we provide updated information about our methods for data access and resources for user training.

Ensembl 2013
Paul Flicek, Ikhlak Ahmed, M Ridwan Amode et al.|Nucleic Acids Research|2012
Cited by 897Open Access

The Ensembl project (http://www.ensembl.org) provides genome information for sequenced chordate genomes with a particular focus on human, mouse, zebrafish and rat. Our resources include evidenced-based gene sets for all supported species; large-scale whole genome multiple species alignments across vertebrates and clade-specific alignments for eutherian mammals, primates, birds and fish; variation data resources for 17 species and regulation annotations based on ENCODE and other data sets. Ensembl data are accessible through the genome browser at http://www.ensembl.org and through other tools and programmatic interfaces.

Ensembl 2012
Paul Flicek, M Ridwan Amode, Daniel Barrell et al.|Nucleic Acids Research|2011
Cited by 837Open Access

The Ensembl project (http://www.ensembl.org) provides genome resources for chordate genomes with a particular focus on human genome data as well as data for key model organisms such as mouse, rat and zebrafish. Five additional species were added in the last year including gibbon (Nomascus leucogenys) and Tasmanian devil (Sarcophilus harrisii) bringing the total number of supported species to 61 as of Ensembl release 64 (September 2011). Of these, 55 species appear on the main Ensembl website and six species are provided on the Ensembl preview site (Pre!Ensembl; http://pre.ensembl.org) with preliminary support. The past year has also seen improvements across the project.