Author

Siobhan Austin-Guest

Wellcome Sanger Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:plant (other)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adrian Baez‐OrtegaiD· 1 shared Alex Byrne· 1 shared Amy L. RobertsiD· 1 shared Andrew R. J. LawsoniD· 1 shared Anna PatersoniD· 1 shared Ayrun NessaiD· 1 shared Bee Ling NgiD· 1 shared Beiyuan FuiD· 1 shared

Activity by Year

2015-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrian Baez‐OrtegaORCID

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2 papers

Recent·Most cited

Somatic mutation and selection at epidemiological scale

Andrew R. J. Lawson, Federico Abascal, Pantelis A. Nicola, Stefanie V. Lensing, Amy L. Roberts, Georgios Kalantzis, Adrian Baez‐Ortega, Natalia Brzozowska, Julia S. El-Sayed Moustafa, Dovile Vaitkute, Belma Jakupovic, Ayrun Nessa, Samuel Wadge, Anna Paterson, Doris M. Rassl, , Iñigo Martincorena

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

medRxiv · Oct 30, 2024 · PreprintGenetic & Genomic Medicine

The pig X and Y chromosomes: structure, sequence and evolution

Benjamin M Skinner, Carole A Sargent, Carol Churcher, Toby Hunt, Javier Herrero, Jane Loveland, Matt Dunn, Sandra Louzada, Beiyuan Fu, William Chow, James Gilbert, Siobhan Austin-Guest, Kathryn Beal, Denise Carvalho-Silva, William Cheng, , Chris Tyler-Smith

This paper presents improved assemblies and gene annotations for the pig X and Y chromosomes, revealing evolutionary mechanisms and gene content differences compared to other mammals.

Genome Research · Nov 11, 2015Peer-reviewedGenomics