Skip to Main Content

Author Details

Sarah E Hunt
European Bioinformatics Institute
1997
106
65
PMIDPaper TitleJournal TitlePublished Year
37953337Ensembl 2024.Nucleic Acids Res2024
37953337Ensembl 2024.Nucleic Acids Res2024
36318249Ensembl 2023.Nucleic Acids Res2023
36318249Ensembl 2023.Nucleic Acids Res2023
37612512The complete sequence of a human Y chromosome.Nature2023
37285546DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annu Rev Genomics Hum Genet2023
37280537SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.BMC Genomics2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
37612512The complete sequence of a human Y chromosome.Nature2023
37285546DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annu Rev Genomics Hum Genet2023
37280537SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.BMC Genomics2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
34718739The European Variation Archive: a FAIR resource of genomic variation for all species.Nucleic Acids Res2022
34634797The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data.Nucleic Acids Res2022
34791404Ensembl 2022.Nucleic Acids Res2022
35037199Scripting Analyses of Genomes in Ensembl Plants.Methods Mol Biol2022
34718739The European Variation Archive: a FAIR resource of genomic variation for all species.Nucleic Acids Res2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
34816521Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Hum Mutat2022
35037199Scripting Analyses of Genomes in Ensembl Plants.Methods Mol Biol2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
34791404Ensembl 2022.Nucleic Acids Res2022
34816521Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Hum Mutat2022
34634797The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data.Nucleic Acids Res2022
33137190Ensembl 2021.Nucleic Acids Res2021
33137190Ensembl 2021.Nucleic Acids Res2021
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
34435752The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.Mol Genet Genomic Med2021
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
34435752The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.Mol Genet Genomic Med2021
31691826Ensembl 2020.Nucleic Acids Res2020
31691826Ensembl 2020.Nucleic Acids Res2020
30407521Ensembl 2019.Nucleic Acids Res2019
30407521Ensembl 2019.Nucleic Acids Res2019
30475984A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.Bioinformatics2019
31127295A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.Hum Mol Genet2019
31147538Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.Nat Commun2019
31127295A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.Hum Mol Genet2019
31147538Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.Nat Commun2019
30475984A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.Bioinformatics2019
29155950Ensembl 2018.Nucleic Acids Res2018
30576484Ensembl variation resources.Database (Oxford)2018
29155950Ensembl 2018.Nucleic Acids Res2018
30576484Ensembl variation resources.Database (Oxford)2018
27899575Ensembl 2017.Nucleic Acids Res2017
27899575Ensembl 2017.Nucleic Acids Res2017
26687719Ensembl 2016.Nucleic Acids Res2016
27236921Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.Am J Hum Genet2016
27268795The Ensembl Variant Effect Predictor.Genome Biol2016
26687719Ensembl 2016.Nucleic Acids Res2016
  • 1 - 50 of 212

Recommended Authors

Christian Benner
Institute for Molecular Medicine Finland (FIMM), University of Helsinki
Career Start Year 2012
Number of shared co-authors 31
Goo Jun
University of Texas Health Science Center at Houston
Career Start Year 2012
Number of shared co-authors 80
Konrad J Karczewski
Broad Institute of MIT and Harvard
Career Start Year 2010
Number of shared co-authors 70
Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Career Start Year 2008
Number of shared co-authors 12
Chad D Huff
University of Texas M.D. Anderson Cancer Center
Career Start Year 2007
Number of shared co-authors 39
Hailiang Huang
Massachusetts General Hospital
Career Start Year 2007
Number of shared co-authors 89
Daniel M Jordan
Icahn School of Medicine at Mount Sinai
Career Start Year 2007
Number of shared co-authors 17
Jeffrey G Reid
Regeneron Pharmaceuticals, Inc.
Career Start Year 2007
Number of shared co-authors 57
Tuuli Lappalainen
Columbia University
Career Start Year 2006
Number of shared co-authors 49
William S Bush
Cleveland Institute for Computational Biology, Case Western Reserve University
Career Start Year 2006
Number of shared co-authors 37
Ali Torkamani
Scripps Science Institute
Career Start Year 2005
Number of shared co-authors 15
James G D Prendergast
The Roslin Institute, The University of Edinburgh
Career Start Year 2005
Number of shared co-authors 23
Vikas Bansal
University of California San Diego
Career Start Year 2004
Number of shared co-authors 5
Klaudia Walter
Wellcome Sanger Institute
Career Start Year 2004
Number of shared co-authors 104
Degui Zhi
University of Texas Health Science Center at Houston
Career Start Year 2004
Number of shared co-authors 80
Tushar Bhangale
Genentech Inc.
Career Start Year 2004
Number of shared co-authors 95
Shane McCarthy
Wellcome Sanger Institute
Career Start Year 2004
Number of shared co-authors 95
Joseph K Pickrell
Gencove Inc.
Career Start Year 2003
Number of shared co-authors 55
Dominik Seelow
Berliner Institut fur Gesundheitsforschung - Charite
Career Start Year 2002
Number of shared co-authors 9
Jessica M Maia
Institute for Genomic Medicine, Columbia University
Career Start Year 2001
Number of shared co-authors 3
Michael A Eberle
Illumina Inc.
Career Start Year 2000
Number of shared co-authors 24
Sebastian Z??llner
University of Michigan ann arbor
Career Start Year 1998
Number of shared co-authors 98
Shamil R Sunyaev
Harvard Medical School
Career Start Year 1997
Number of shared co-authors 87
Christopher S Carlson
University of Washington
Career Start Year 1994
Number of shared co-authors 107
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Career Start Year 1993
Number of shared co-authors 80
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Career Start Year 1992
Number of shared co-authors 69
Michael E Zwick
Rutgers University-New Brunswick, Rutgers University
Career Start Year 1989
Number of shared co-authors 21
Anthony J Brookes
University of Leicester
Career Start Year 1989
Number of shared co-authors 81
Gustavo Glusman
Institute for Systems Biology
Career Start Year 1988
Number of shared co-authors 50
Deborah A Nickerson
University of Washington
Career Start Year 1976
Number of shared co-authors 173

Collaborators

Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 62
Cordelia Langford
Co-authored papers 28
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 27
Sarah Edkins
Co-authored papers 23
Peter Donnelly
University of Oxford
Co-authored papers 22
Rhian Gwilliam
The Wellcome Trust Sanger Institute
Co-authored papers 21
Simon C Potter
Co-authored papers 21
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 19
Paul Flicek
European Bioinformatics Institute
Co-authored papers 19
Chris C A Spencer
University of Oxford
Co-authored papers 18
Colin N A Palmer
Pat Macpherson Centre for Pharmacogenomics and Pharmacogenetics, University of Dundee
Co-authored papers 18
Stephen Sawcer
Co-authored papers 17
Christopher G Mathew
Co-authored papers 16
Jane Rogers
The Wellcome Trust Sanger Institute
Co-authored papers 15
Colin Freeman
State University of New York at Geneseo
Co-authored papers 15
Andrew D Yates
European Bioinformatics Institute
Co-authored papers 15
Adam Frankish
Co-authored papers 15
Pamela Whittaker
King Edward Memorial Hospital
Co-authored papers 15
Chris Clee
Co-authored papers 14
Nigel P Carter
4Wellcome Trust Sanger Institute
Co-authored papers 14
Leena Peltonen
Co-authored papers 14
Emma Gray
Co-authored papers 13
Mark I McCarthy
Co-authored papers 13
Ian Dunham
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 13
Amy Strange
Co-authored papers 13
Céline Bellenguez
Co-authored papers 13
Audrey Duncanson
Co-authored papers 13
Zhan Su
Co-authored papers 12
Lon R Cardon
BioMarin Pharmaceutical Inc.
Co-authored papers 12
Janusz Jankowski
Co-authored papers 12
Release 1.2