Author

Helen Firth

University of Cambridge

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Biology Disciplines

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Genomics· 1

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

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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

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2026-2026 · peak 1/yr

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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

GenomicsbioRxivPreprintJun 21, 2026

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

Katrina A. Andrews, Matthew D. C. Neville, Inigo Martincorena…·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.

1 citation

humanwhole-genome sequencing

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