Fiona Cunningham

发表

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

Helen E. Parkinson, Jacqueline A. L. MacArthur, Emily Bowler, 2016, Nucleic Acids Res..

A database and API for variation, dense genotyping and resequencing data

Daniel Rios, Yuan Chen, Paul Flicek, 2010, BMC Bioinformatics.

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Fiona Cunningham, Archie Campbell, David R. FitzPatrick, 2019, Nature Communications.

Scaling up data curation using deep learning: An application to literature triage in genomic variation resources

Zhiyong Lu, Ioannis Xenarios, Aoife McMahon, 2018, PLoS Comput. Biol..

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Helen E. Parkinson, Jacqueline A. L. MacArthur, Maria Cerezo, 2018, Nucleic Acids Res..

WormBase: a cross-species database for comparative genomics

Juancarlos Chan, Hans-Michael Müller, Paul W. Sternberg, 2003, Nucleic Acids Res..

GENCODE reference annotation for the human and mouse genomes

Mark Gerstein, Tomás Di Domenico, Jane Loveland, 2018, Nucleic Acids Res..

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Ensembl variation resources

Laurent Gil, Paul Flicek, Fiona Cunningham, 2018, Database J. Biol. Databases Curation.

Ensembl 2011

Daniel Rios, Yuan Chen, Paul Flicek, 2010, Nucleic Acids Res..

WormBase: a comprehensive data resource for Caenorhabditis biology and genomics

Kimberly Van Auken, Juancarlos Chan, Hans-Michael Müller, 2004, Nucleic Acids Res..

Ensembl 2013

Laurent Gil, Paul Flicek, Fiona Cunningham, 2012, Nucleic Acids Res..

Ensembl 2015

Alessandro Vullo, Daniel R. Zerbino, Laurent Gil, 2014, Nucleic Acids Res..

Ensembl 2019

Astrid Gall, Alessandro Vullo, Jane Loveland, 2018, Nucleic Acids Res..

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Jacqueline A. L. MacArthur, Laurent Gil, Joannella Morales, 2013, Nucleic Acids Res..

The Ensembl Variant Effect Predictor

Fiona Cunningham, William M. McLaren, Graham R. S. Ritchie, 2016 .

Ensembl 2017

Alessandro Vullo, Matthew R. Laird, Daniel R. Zerbino, 2016, Nucleic Acids Res..

Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor

Daniel Rios, Yuan Chen, Paul Flicek, 2022 .

Open-Source Software for Large-Scale Genome Analysis

Fiona Cunningham, Anne Parker, 2009 .

A Combined Functional Annotation Score for Non-Synonymous Variants

Fiona Cunningham, Eleftheria Zeggini, Chris Joyce, 2012, Human Heredity.

Using GVF for Clinical Annotation of Personal Genomes

Shawn Rynearson, Karen Eilbeck, Fiona Cunningham, 2012, AIMM.

Ensembl variation resources

Laurent Gil, Paul Flicek, Fiona Cunningham, 2010, BMC Genomics.

Annotation and curation of human genomic variations: an ELIXIR Implementation Study

Marcella Attimonelli, Fiona Cunningham, Roberto Preste, 2020, F1000Research.

Ensembl 2006

Andreas Prlic, Damian Smedley, Daniel Rios, 2005, Nucleic Acids Res..

Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial

Fiona Cunningham, Andrew D. Yates, Helen Schuilenburg, 2021, Human mutation.

The value of primary transcripts to the clinical and non-clinical genomics community: survey results and roadmap for improvements.

Jane Loveland, Aoife McMahon, Joannella Morales, 2021 .

Ensembl 2021

Astrid Gall, James E. Allen, Daniel R. Zerbino, 2020, Nucleic Acids Res..

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

Paralogous annotation of disease‐causing variants in long QT syndrome genes

Fiona Cunningham, Ewan Birney, Roddy Walsh, 2012, Human mutation.

A standard variation file format for human genome sequences

Karen Eilbeck, Paul Flicek, Fiona Cunningham, 2010, Genome Biology.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Ensembl 2020

Astrid Gall, Alessandro Vullo, James E. Allen, 2019, Nucleic Acids Res..

Haplosaurus computes protein haplotypes for use in precision drug design

Paul Flicek, Fiona Cunningham, William Spooner, 2018, Nature Communications.