Author

Maria Torra I Benach

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.

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Genetic & Genomic Medicine· 1

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

Frequent Co-Authors

Aylwyn ScallyiD· 1 shared Hilary C. MartiniD· 1 shared John Andrew SayeriD· 1 shared My H. PhamiD· 1 shared O. Isaac Garcia-SalinasiD· 1 shared Raheleh RahbariiD· 1 shared Rashesh SanghviiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aylwyn ScallyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 17, 2025

Landscape of parental postzygotic mutations in >11,000 rare disease trios

O. Isaac Garcia-Salinas, Rashesh Sanghvi, John Andrew Sayer…·Raheleh Rahbari

The paper identifies 1,015 high-confidence postzygotic mutations in 12,015 parent-offspring trios, showing they contribute to clinical phenotypes and can be detected from standard sequencing data.

DOI 10.1101/2025.10.17.25337713

humanwhole-genome sequencing

𝕏 PostBluesky