Author

Helen Firth

University of Cambridge

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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Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Inigo Martincorena· 1 shared Katrina A. AndrewsiD· 1 shared Marc D. TischkowitziD· 1 shared Matthew D. C. NevilleiD· 1 shared Matthew E. HurlesiD· 1 shared Raheleh RahbariiD· 1 shared Sarah LindsayiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Inigo Martincorena

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1 paper

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