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EMBL European Bioinformatics Institute: Cambridge, Cambridgeshire, GB

Employment
Source: Self-asserted source
Sarah Hunt

Works (50 of 170)

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Ensembl 2025.

Nucleic acids research
2025-01 | Journal article
DOI: 10.1093/nar/gkae1071
PMID: 39656687
PMC: PMC11701638
Contributors: Dyer SC; Austine-Orimoloye O; Azov AG; Barba M; Barnes I; Barrera-Enriquez VP; Becker A; Bennett R; Beracochea M; Berry A et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2024

Nucleic Acids Research
2025-01-06 | Journal article
DOI: 10.1093/nar/gkae1089
Contributors: Matthew Thakur; Catherine Brooksbank; Robert D Finn; Helen V Firth; Julia Foreman; Mallory Freeberg; Kim T Gurwitz; Melissa Harrison; David Hulcoop; Sarah E Hunt et al.
Source: check_circle
Crossref

AlphaMissense predictions for human genetic variation research

2024-12 | Other
DOI: 10.6019/tol.alphamissense2024-w.2024.00001.1
OTHER-ID:

C8332
Contributors: Pan J; Avsec Z; Wong E; Gomez PGM; Mirabueno LP; Moore B; Lussi Y; Luciani A; Hunt S; Foreman J
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

Genome medicine
2024-11 | Journal article
DOI: 10.1186/s13073-024-01398-1
PMID: 39506859
PMC: PMC11539801
Contributors: Yates TM; Ansari M; Thompson L; Hunt SE; Uhalte EC; Hobson RJ; Marsh JA; Wright CF; Firth HV
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Complex genetic variation in nearly complete human genomes

2024-09 | Preprint
DOI: 10.1101/2024.09.24.614721
PPR: PPR915346
Contributors: Logsdon GA; Ebert P; Audano PA; Loftus M; Porubsky D; Ebler J; Yilmaz F; Hallast P; Prodanov T; Yoo D et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Impact and characterization of serial structural variations across humans and great apes.

Nature communications
2024-09 | Journal article
DOI: 10.1038/s41467-024-52027-9
PMID: 39266513
PMC: PMC11393467
Contributors: Höps W; Rausch T; Jendrusch M; Human Genome Structural Variation Consortium (HGSVC); Korbel JO; Sedlazeck FJ
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Mobilisation and analyses of publicly available SARS-CoV-2 data for pandemic responses.

Microbial genomics
2024-02 | Journal article
DOI: 10.1099/mgen.0.001188
PMID: 38358325
PMC: PMC10926692
Contributors: Rahman N; O'Cathail C; Zyoud A; Sokolov A; Oude Munnink B; Grüning B; Cummins C; Amid C; Nieuwenhuijse DF; Visontai D et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Curating genomic disease-gene relationships with Gene2Phenotype

2024-02-28 | Preprint
DOI: 10.1101/2024.02.26.24303357
Contributors: T Michael Yates; Morad Ansari; Louise Thompson; Sarah E Hunt; Elena Cibrian Uhalte; Rachel J Hobson; Joseph A Marsh; Caroline F Wright; Helen V Firth
Source: check_circle
Crossref

Ensembl 2024.

Nucleic acids research
2024-01 | Journal article
DOI: 10.1093/nar/gkad1049
PMID: 37953337
PMC: PMC10767893
Contributors: Harrison PW; Amode MR; Austine-Orimoloye O; Azov AG; Barba M; Barnes I; Becker A; Bennett R; Berry A; Bhai J et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.

Annual review of genomics and human genetics
2023-06 | Journal article
DOI: 10.1146/annurev-genom-102822-100509
PMID: 37285546
Contributors: Foreman J; Perrett D; Mazaika E; Hunt SE; Ware JS; Firth HV
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Mapping MAVE data for use in human genomics applications

2023-06 | Preprint
DOI: 10.1101/2023.06.20.545702
PPR: PPR680021
Contributors: Arbesfeld JA; Da EY; Kuzma K; Paul A; Farris T; Riehle K; Agostinho NDS; Safer JF; Milosavljevic A; Foreman J et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.

BMC genomics
2023-06 | Journal article
DOI: 10.1186/s12864-023-09391-5
PMID: 37280537
PMC: PMC10245480
Contributors: Salz R; Saraiva-Agostinho N; Vorsteveld E; van der Made CI; Kersten S; Stemerdink M; Allen J; Volders PJ; Hunt SE; Hoischen A et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

The New England journal of medicine
2023-04 | Journal article
DOI: 10.1056/nejmoa2209046
PMID: 37043637
PMC: PMC7614484
Contributors: Wright CF; Campbell P; Eberhardt RY; Aitken S; Perrett D; Brent S; Danecek P; Gardner EJ; Chundru VK; Lindsay SJ et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl 2023.

Nucleic acids research
2023-01 | Journal article
DOI: 10.1093/nar/gkac958
PMID: 36318249
PMC: PMC9825606
Contributors: Martin FJ; Amode MR; Aneja A; Austine-Orimoloye O; Azov AG; Barnes I; Becker A; Bennett R; Berry A; Bhai J et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Journal of medical genetics
2023-01 | Journal article
DOI: 10.1136/jmg-2022-108618
PMID: 36669873
Contributors: Lenassi E; Carvalho A; Thormann A; Abrahams L; Arno G; Fletcher T; Hardcastle C; Lopez J; Hunt SE; Short P et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

The complete sequence of a human Y chromosome

2022-12 | Preprint
DOI: 10.1101/2022.12.01.518724
PPR: PPR578960
Contributors: Rhie A; Nurk S; Cechova M; Hoyt SJ; Taylor DJ; Altemose N; Hook PW; Koren S; Rautiainen M; Alexandrov IA et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

2022-10 | Preprint
DOI: 10.1101/2022.10.23.513417
PPR: PPR562204
Contributors: Salz R; Saraiva-Agostinho N; Vorsteveld E; van der Made CI; Kersten S; Stemerdink M; Allen J; Volders P; Hunt SE; Hoischen A et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

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

Human Mutation
2022-08 | Journal article
DOI: 10.1002/humu.24298
Contributors: Sarah E. Hunt; Benjamin Moore; Ridwan M. Amode; Irina M. Armean; Diana Lemos; Aleena Mushtaq; Andrew Parton; Helen Schuilenburg; Michał Szpak; Anja Thormann et al.
Source: check_circle
Crossref

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

Human Mutation
2022-02-21 | Journal article
DOI: 10.1002/humu.24340
Contributors: Julia Foreman; Simon Brent; Daniel Perrett; Andrew P. Bevan; Sarah E. Hunt; Fiona Cunningham; Matthew E. Hurles; Helen V. Firth
Source: check_circle
Crossref

Ensembl 2022.

Nucleic acids research
2022-01 | Journal article
DOI: 10.1093/nar/gkab1049
PMID: 34791404
PMC: PMC8728283
Contributors: Cunningham F; Allen JE; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Austine-Orimoloye O; Azov AG; Barnes I; Bennett R et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Scripting Analyses of Genomes in Ensembl Plants.

Methods in molecular biology (Clifton, N.J.)
2022-01 | Journal article
DOI: 10.1007/978-1-0716-2067-0_2
PMID: 35037199
Contributors: Contreras-Moreira B; Naamati G; Rosello M; Allen JE; Hunt SE; Muffato M; Gall A; Flicek P
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data

Nucleic Acids Research
2022-01-07 | Journal article
DOI: 10.1093/nar/gkab889
Contributors: Nishadi H De Silva; Jyothish Bhai; Marc Chakiachvili; Bruno Contreras-Moreira; Carla Cummins; Adam Frankish; Astrid Gall; Thiago Genez; Kevin L Howe; Sarah E Hunt et al.
Source: check_circle
Crossref

The European Variation Archive: a FAIR resource of genomic variation for all species

Nucleic Acids Research
2022-01-07 | Journal article
DOI: 10.1093/nar/gkab960
Contributors: Timothe Cezard; Fiona Cunningham; Sarah E Hunt; Baron Koylass; Nitin Kumar; Gary Saunders; April Shen; Andres F Silva; Kirill Tsukanov; Sundararaman Venkataraman et al.
Source: check_circle
Crossref

The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements

Molecular Genetics & Genomic Medicine
2021-12 | Journal article
DOI: 10.1002/mgg3.1786
Contributors: Joannella Morales; Aoife C. McMahon; Jane Loveland; Emily Perry; Adam Frankish; Sarah Hunt; Irina M. Armean; Paul Flicek; Fiona Cunningham
Source: check_circle
Crossref

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell genomics
2021-11 | Other
DOI: 10.1016/j.xgen.2021.100029
PMID: 35072136
PMC: PMC8774288
Contributors: Rehm HL; Page AJH; Smith L; Adams JB; Alterovitz G; Babb LJ; Barkley MP; Baudis M; Beauvais MJS; Beck T et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Cell Genomics
2021-11 | Journal article
DOI: 10.1016/j.xgen.2021.100027
Contributors: Alex H. Wagner; Lawrence Babb; Gil Alterovitz; Michael Baudis; Matthew Brush; Daniel L. Cameron; Melissa Cline; Malachi Griffith; Obi L. Griffith; Sarah E. Hunt et al.
Source: check_circle
Crossref

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research

2021-10-10 | Other
DOI: 10.22541/au.163389792.27006605/v1
Contributors: Julia Foreman; Simon Brent; Daniel Perrett; Andrew Bevan; Sarah Hunt; Fiona Cunningham; Matthew Hurles; Helen Firth
Source: check_circle
Crossref

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

2021-07 | Preprint
DOI: 10.1101/2021.07.23.21261017
PPR: PPR374246
Contributors: Lenassi E; Carvalho A; Thormann A; Fletcher T; Hardcastle C; Hunt SE; Sergouniotis PI; Michaelides M; Webster AR; Cunningham F et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Annotating and prioritising genomic variants using the Ensembl Variant Effect Predictor - a tutorial

2021-06 | Preprint
DOI: 10.22541/au.162460842.27880071/v1
PPR: PPR361980
Contributors: Hunt S; Moore B; Amode M; Armean I; Lemos D; Mushtaq A; Parton A; Schuilenburg H; Szpak M; Thormann A et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

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

2021-03 | Preprint
DOI: 10.22541/au.161674625.52543047/v1
PPR: PPR303782
Contributors: Morales J; McMahon A; Loveland J; Perry E; Frankish A; Hunt S; Armean I; Flicek P; Cunningham F
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

2021-01-17 | Preprint
DOI: 10.1101/2021.01.15.426843
Contributors: Alex H Wagner; Lawrence Babb; Gil Alterovitz; Michael Baudis; Matthew Brush; Daniel L Cameron; Melissa Cline; Malachi Griffith; Obi L Griffith; Sarah Hunt et al.
Source: check_circle
Crossref

The Ensembl COVID-19 resource: Ongoing integration of public SARS-CoV-2 data

2020-12 | Preprint
DOI: 10.1101/2020.12.18.422865
PPR: PPR257173
Contributors: De Silva NH; Bhai J; Chakiachvili M; Contreras-Moreira B; Cummins C; Frankish A; Gall A; Genez T; Howe KL; Hunt SE et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl 2021.

Nucleic acids research
2020-11 | Journal article
DOI: 10.1093/nar/gkaa942
PMID: 33137190
Contributors: Howe KL; Achuthan P; Allen J; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Azov AG; Bennett R; Bhai J et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Annotation and curation of human genomic variations: an ELIXIR Implementation Study [version 1; peer review: 2 approved with reservations]

2020-10-08 | Journal article
DOI: 10.12688/f1000research.24427.1
Part of ISSN: 2046-1402
Contributors: Alessia David; Valérie Barbié; Marcella Attimonelli; Roberto Preste; Enni Makkonen; Heidi Marjonen; Mats Lindstedt; Kati Kristiansson; Sarah E. Hunt; Fiona Cunningham et al.
Source: check_circle
F1000
grade
Preferred source (of 2)‎

Ensembl 2020.

Nucleic acids research
2019-11 | Journal article
DOI: 10.1093/nar/gkz966
PMID: 31691826
Contributors: Yates AD; Achuthan P; Akanni W; Allen J; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Azov AG; Bennett R et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl Genomes 2020-enabling non-vertebrate genomic research.

Nucleic acids research
2019-10 | Journal article
DOI: 10.1093/nar/gkz890
PMID: 31598706
Contributors: Howe KL; Contreras-Moreira B; De Silva N; Maslen G; Akanni W; Allen J; Alvarez-Jarreta J; Barba M; Bolser DM; Cambell L et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

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

Nature Communications
2019-05-30 | Journal article
DOI: 10.1038/s41467-019-10016-3
Contributors: Anja Thormann; Mihail Halachev; William McLaren; David J. Moore; Victoria Svinti; Archie Campbell; Shona M. Kerr; Marc Tischkowitz; Sarah E. Hunt; Malcolm G. Dunlop et al.
Source: check_circle
Crossref

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2019-02 | Journal article
DOI: 10.1002/ajmg.b.32716
PMID: 30801977
PMC: PMC8863274
Contributors: Harold D; Connolly S; Riley BP; Kendler KS; McCarthy SE; McCombie WR; Richards A; Owen MJ; O'Donovan MC; Walters J et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Genome medicine
2018-12 | Journal article
DOI: 10.1186/s13073-018-0604-8
PMID: 30572963
PMC: PMC6302306
Contributors: Márquez A; Kerick M; Zhernakova A; Gutierrez-Achury J; Chen WM; Onengut-Gumuscu S; González-Álvaro I; Rodriguez-Rodriguez L; Rios-Fernández R; Martín J
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.

Bioinformatics (Oxford, England)
2018-11 | Journal article
DOI: 10.1093/bioinformatics/bty960
PMID: 30475984
Contributors: Shamsani J; Kazakoff SH; Armean IM; McLaren W; Parsons MT; Thompson BA; O'Mara TA; Hunt SE; Waddell N; Spurdle AB
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl 2019.

Nucleic acids research
2018-11 | Journal article
DOI: 10.1093/nar/gky1113
PMID: 30407521
Contributors: Cunningham F; Achuthan P; Akanni W; Allen J; Amode MR; Armean IM; Bennett R; Bhai J; Billis K; Boddu S et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

2018-09 | Preprint
DOI: 10.1101/416552
PPR: PPR55733
Contributors: Thormann A; Halachev M; McLaren W; Moore DJ; Svinti V; Campbell A; Kerr SM; Hunt S; Dunlop MG; Hurles ME et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

Cell
2018-06 | Journal article
DOI: 10.1016/j.cell.2018.05.046
PMID: 29906448
PMC: PMC6432650
Contributors: Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Genetic variation in <i>VAC14</i> is associated with bacteremia secondary to diverse pathogens in African children.

Proceedings of the National Academy of Sciences of the United States of America
2018-03 | Journal article
DOI: 10.1073/pnas.1802071115
PMID: 29588414
PMC: PMC5910872
Contributors: Gilchrist JJ; Mentzer AJ; Rautanen A; Pirinen M; Mwarumba S; Njuguna P; Mturi N; Wellcome Trust Case-Control Consortium 2; Hill AVS
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl variation resources.

Database : the journal of biological databases and curation
2018-01 | Journal article
DOI: 10.1093/database/bay119
PMID: 30576484
Contributors: Hunt SE; McLaren W; Gil L; Thormann A; Schuilenburg H; Sheppard D; Parton A; Armean IM; Trevanion SJ; Flicek P et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl 2018.

Nucleic Acids Research
2017-11 | Journal article
DOI: 10.1093/nar/gkx1098
PMID: 29155950
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

The Ensembl Variant Effect Predictor.

2016 | Journal article
DOI: 10.1186/s13059-016-0974-4
PMID: 27268795
PMC: PMC4893825
Contributors: McLaren W; Gil L; Hunt SE; Riat HS; Ritchie GR; Thormann A; Flicek P; Cunningham F
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Ensembl 2017.

2016-11 | Journal article
PMID: 27899575
Contributors: Aken BL; Achuthan P; Akanni W; Amode MR; Bernsdorff F; Bhai J; Billis K; Carvalho-Silva D; Cummins C; Clapham P et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.

2016-06 | Journal article
DOI: 10.1016/j.ajhg.2016.03.025
PMID: 27236921
Contributors: Kenyan Bacteraemia Study Group; Wellcome Trust Case Control Consortium 2 (WTCCC2); Rautanen A; Pirinen M; Mills TC; Rockett KA; Strange A; Ndungu AW; Naranbhai V; Gilchrist JJ et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central

Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.

Molecular psychiatry
2016-05 | Journal article
DOI: 10.1038/mp.2016.71
PMID: 27184124
PMC: PMC5114162
Contributors: Hinney A; Kesselmeier M; Jall S; Volckmar AL; Föcker M; Antel J; GCAN; WTCCC3; Heid IM; Winkler TW et al.
Source: Self-asserted source
Sarah Hunt via Europe PubMed Central
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Peer review (1 review for 1 publication/grant)

Review activity for Genome medicine. (1)
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