F
Fiona Cunningham
Researcher at European Bioinformatics Institute
Publications - 56
Citations - 17888
Fiona Cunningham is an academic researcher from European Bioinformatics Institute. The author has contributed to research in topics: Ensembl & Genome. The author has an hindex of 28, co-authored 52 publications receiving 12081 citations. Previous affiliations of Fiona Cunningham include Wellcome Trust Sanger Institute & Walter and Eliza Hall Institute of Medical Research.
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Journal ArticleDOI
The Ensembl Variant Effect Predictor.
William M. McLaren,Laurent Gil,Sarah E. Hunt,Harpreet Singh Riat,Graham R. S. Ritchie,Anja Thormann,Paul Flicek,Fiona Cunningham +7 more
TL;DR: The Ensembl Variant Effect Predictor can simplify and accelerate variant interpretation in a wide range of study designs.
Journal ArticleDOI
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
Annalisa Buniello,Jacqueline A. L. MacArthur,Maria Cerezo,Laura W. Harris,James D. Hayhurst,Cinzia Malangone,Aoife McMahon,Joannella Morales,Edward Mountjoy,Edward Mountjoy,Elliot Sollis,Daniel Suveges,Olga Vrousgou,Patricia L. Whetzel,M. Ridwan Amode,Jose A. Guillen,Harpreet Singh Riat,Stephen J. Trevanion,Peggy Hall,Heather Junkins,Paul Flicek,Tony Burdett,Lucia A. Hindorff,Fiona Cunningham,Helen Parkinson +24 more
TL;DR: Improved data access is improved with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database.
Journal ArticleDOI
GENCODE reference annotation for the human and mouse genomes.
Adam Frankish,Mark Diekhans,Anne-Maud Ferreira,Rory Johnson,Irwin Jungreis,Irwin Jungreis,Jane E. Loveland,Jonathan M. Mudge,Cristina Sisu,Cristina Sisu,James C. Wright,Joel Armstrong,If Barnes,Andrew Berry,Alexandra Bignell,Silvia Carbonell Sala,Jacqueline Chrast,Fiona Cunningham,Tomás Di Domenico,Sarah Donaldson,Ian T. Fiddes,Carlos García Girón,Jose Manuel Gonzalez,Tiago Grego,Matthew P. Hardy,Thibaut Hourlier,Toby Hunt,Osagie G. Izuogu,Julien Lagarde,Fergal J. Martin,Laura Martinez,Shamika Mohanan,Paul R. Muir,Fabio C. P. Navarro,Anne Parker,Baikang Pei,Fernando Pozo,Magali Ruffier,Bianca M. Schmitt,Eloise Stapleton,Marie-Marthe Suner,Irina Sycheva,Barbara Uszczynska-Ratajczak,Jinuri Xu,Andrew D. Yates,Daniel R. Zerbino,Yan Zhang,Yan Zhang,Bronwen Aken,Jyoti S. Choudhary,Mark Gerstein,Roderic Guigó,Tim Hubbard,Manolis Kellis,Manolis Kellis,Benedict Paten,Alexandre Reymond,Michael L. Tress,Paul Flicek +58 more
TL;DR: This work generates primary data, creates bioinformatics tools and provides analysis to support the work of expert manual gene annotators and automated gene annotation pipelines to identify and characterise gene loci to the highest standard.
Journal ArticleDOI
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Jacqueline A. L. MacArthur,Emily H. Bowler,Maria Cerezo,Laurent Gil,Peggy Hall,Emma Hastings,Heather Junkins,Aoife McMahon,Annalisa Milano,Joannella Morales,Zoë May Pendlington,Danielle Welter,Tony Burdett,Lucia A. Hindorff,Paul Flicek,Fiona Cunningham,Helen Parkinson +16 more
TL;DR: Improvements to the NHGRI-EBI GWAS Catalog improved the data release frequency by increasing automation of curation and providing scaling improvements, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.
Journal ArticleDOI
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
TL;DR: 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, and a web-based tool (the SNP Effect Predictor) and API interface can now functionally annotate variants in all EnsembL and Ensemble Genomes supported species.