Author

Rachel J. Hobson

Wellcome Sanger InstituteORCID 0000-0003-1997-9557Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Helen V. FirthiD· 3 shared Caroline Fiona WrightiD· 2 shared Julia ForemaniD· 2 shared Allan BayatiD· 1 shared Anna MiddletoniD· 1 shared Berta AlmogueraiD· 1 shared Charlotte Margaret WrightiD· 1 shared Charlotte W. OckeloeniD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Helen V. FirthORCID

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3 papers

Recent·Most cited

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson, Hannah Kwuo, Elena Martínez‐Cayuelas, Berta Almoguera, Purificación Marín Reina, Stefano Giuseppe Caraffi, Livia Garavelli, Emily Woods, Meena Balasubramanian, Allan Bayat, Charlotte W. Ockeloen, Charlotte Margaret Wright, Helen V. Firth, Tim James Cole

The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.

European Journal of Human Genetics · Oct 12, 2025Peer-reviewedGenetic & Genomic Medicine

Curating genomic disease-gene relationships with Gene2Phenotype

T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E Hunt, Elena Cibrián–Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline Fiona Wright, Helen V. Firth

The paper describes a structured curation process for the Gene2Phenotype project to systematically evaluate and organize genomic disease-gene relationships.

medRxiv · Feb 26, 2024 · PreprintGenetic & Genomic Medicine

Optimising diagnostic yield in highly penetrant genomic disease

Caroline Fiona Wright, Patrick H. Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah Lindsay, Katrina A. Andrews, Juliet E. Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, , Helen V. Firth

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

medRxiv · Jul 25, 2022 · PreprintGenetic & Genomic Medicine