Author

Mette Jørgensen

Great Ormond Street HospitalORCID 0000-0001-9471-3236Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Iñigo MartincorenaiD· 2 shared Rashesh SanghviiD· 2 shared Thomas R. W. OliveriD· 2 shared Tim H. H. CoorensiD· 2 shared Timothy M. ButleriD· 2 shared Yvette E. Hooks· 2 shared Adrienne Margaret FlanaganiD· 1 shared Alex CaganiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersCancer Biology

Iñigo MartincorenaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

The mutational landscape of human somatic and germline cells

Luiza Moore, Alex Cagan, Tim H. H. Coorens, Matthew D. C. Neville, Rashesh Sanghvi, Mathijs Arnoud Sanders, Thomas R. W. Oliver, Daniel A. Leongamornlert, Peter Ellis, Ayesha Noorani, Thomas J. Mitchell, Timothy M. Butler, Yvette E. Hooks, Anne Yvonne Warren, Mette Jørgensen, , Raheleh Rahbari

This study compares mutational landscapes in somatic and germline cells across 29 anatomical structures, identifying key mutational signatures and their contributions to different cell types.

Yearbook of pediatric endocrinology · Sep 12, 2022Peer-reviewedGenomics