Author

Katrina A. Andrews

Wellcome Sanger InstituteORCID 0000-0002-3261-1709Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Matthew E. HurlesiD· 2 shared Sarah LindsayiD· 2 shared Anna MiddletoniD· 1 shared Caroline Fiona WrightiD· 1 shared Daniel PerrettiD· 1 shared David R FitzPatrickiD· 1 shared Eugene J. GardneriD· 1 shared Helen Firth· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenomics

Matthew E. HurlesORCID

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2 papers

Recent·Most cited

Using somatic data to aid germline clinical variant interpretation in developmental disorders

Katrina A. Andrews, Matthew D. C. Neville, Inigo Martincorena, Raheleh Rahbari, Helen Firth, Sarah Lindsay, Marc D. Tischkowitz, Matthew E. Hurles

This paper uses somatic mutation data to improve the classification of germline variants in developmental disorders by identifying genes where somatic and germline mechanisms are concordant.

bioRxiv · Jun 21, 2026 · PreprintGenomics

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