Author

Stefanie V. Lensing

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.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Cancer Biology· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant calling· 4 Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:gene regulatory network inference· 2 Assay:whole-genome sequencing· 2 Research Focus:cell type annotation· 1

Frequent Co-Authors

Iñigo MartincorenaiD· 4 shared Andrew R. J. LawsoniD· 3 shared Federico AbascaliD· 3 shared Michael R. StrattoniD· 3 shared Pantelis A. NicolaiD· 3 shared Peter J. CampbelliD· 3 shared Adrian Baez‐OrtegaiD· 2 shared Henry Lee-SixiD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Iñigo MartincorenaORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Sperm sequencing reveals extensive positive selection in the male germline

Matthew D. C. Neville, Andrew R. J. Lawson, Rashesh Sanghvi, Federico Abascal, My H. Pham, Alex Cagan, Pantelis A. Nicola, Tetyana Bayzetinova, Adrian Baez‐Ortega, Kirsty Roberts, Stefanie V. Lensing, Sara Widaa, Raul E. Alcantara, María Paz García, Sam Wadge, , Raheleh Rahbari

This study uses sperm sequencing to show that positive selection in the male germline leads to a higher risk of disease-causing mutations in offspring.

Nature · Oct 8, 2025Peer-reviewedGenetic & Genomic Medicine

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

Thomas R. W. Oliver, Andrew R. J. Lawson, Henry Lee-Six, Anna Tollit, Hyunchul Jung, Yvette E. Hooks, Rashesh Sanghvi, Matthew D. Young, Timothy M. Butler, Pantelis A. Nicola, Taryn D. Treger, Stefanie V. Lensing, G.A. Amos Burke, Kristian Aquilina, Ulrike Löbel, , Sam Behjati

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

Nature Genetics · Feb 25, 2025Peer-reviewedCancer Biology

Somatic mutation and selection at epidemiological scale

Andrew R. J. Lawson, Federico Abascal, Pantelis A. Nicola, Stefanie V. Lensing, Amy L. Roberts, Georgios Kalantzis, Adrian Baez‐Ortega, Natalia Brzozowska, Julia S. El-Sayed Moustafa, Dovile Vaitkute, Belma Jakupovic, Ayrun Nessa, Samuel Wadge, Anna Paterson, Doris M. Rassl, , Iñigo Martincorena

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

medRxiv · Oct 30, 2024 · PreprintGenetic & Genomic Medicine

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Ólafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs Arnoud Sanders, Stefanie V. Lensing, , Michael R. Stratton

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

Nature Communications · Jul 8, 2022Peer-reviewedGenomics