Cunningham, Fiona

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

The Ensembl Variant Effect Predictor

McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 8,099

The International HapMap Project

†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 6,057

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

Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 4,000

Ensembl 2018

Zerbino, D. R., Achuthan, P., Akanni, W., Amode, M. R., Barrell, D., Bhai, J., Billis, K., Cummins, C., Gall, A., Girón, C. G., et al. (2018) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 2,605

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

MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research

Genetic Associations and EpidemiologyResearch Data Management Practices

Cited by 2,161

Ensembl 2022

Cunningham, F., Allen, J. E., Allen, J., Alvarez-Jarreta, J., Amode, M. R., Armean, I. M., Austine-Orimoloye, O., Azov, A. G., Barnes, I., Bennett, R., et al. (2022) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 1,923

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research

Genetic Associations and EpidemiologyResearch Data Management Practices

Cited by 1,641

GENCODE 2021

Frankish, A., Diekhans, M., Jungreis, I., Lagarde, J., Loveland, J. E., Mudge, J. M., Sisu, C., Wright, J. C., Armstrong, J., Barnes, I., et al. (2021) · Nucleic Acids Research

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 1,334

Ensembl 2015

Cunningham, F., Amode, M. R., Barrell, D., Beal, K., Billis, K., Brent, S., Carvalho-Silva, D., Clapham, P., Coates, G., Fitzgerald, S., et al. (2015) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 1,115

Ensembl 2019

Cunningham, F., Achuthan, P., Akanni, W., Allen, J., Amode, M. R., Armean, I. M., Bennett, R., Bhai, J., Billis, K., Boddu, S., et al. (2019) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 925

Ensembl 2024

Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., et al. (2024) · Nucleic Acids Research

Genomics and Phylogenetic StudiesGenetics, Bioinformatics, and Biomedical Research

Cited by 742

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Morales, J., Pujar, S., Loveland, J. E., Astashyn, A., Bennett, R., Berry, A., Cox, E., Davidson, C., Ermolaeva, O., Farrell, C. M., et al. (2022) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 571

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

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Ensembl 2017

Aken, B. L., Achuthan, P., Akanni, W., Amode, M. R., Bernsdorff, F., Bhai, J., Billis, K., Carvalho-Silva, D., Cummins, C., Clapham, P., et al. (2017) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 512

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology

Race, Genetics, and SocietyGenetic Associations and Epidemiology

Cited by 217

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

Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., et al. (2019) · Nature Communications

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 151

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

Lee, K., Famiglietti, M. L., McMahon, A., Wei, C.-H., MacArthur, J. A. L., Poux, S., Breuza, L., Bridge, A., Cunningham, F., Xenarios, I., et al. (2018) · PLOS Computational Biology

Biomedical Text Mining and OntologiesInformation Retrieval and Search Behavior

Cited by 47