Author

Paul A. Edwards

University of CambridgeORCID 0000-0002-4789-3374Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 5 Assay:whole-genome sequencing· 5 Organism:human· 4 Research Focus:differential expression· 3 Research Focus:variant calling· 3 Research Focus:gene regulatory network inference· 2 Research Focus:clustering· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ana Dueso-BarrosoiD· 3 shared Andy G. LynchiD· 3 shared David TorrentsiD· 3 shared Eunjung Alice LeeiD· 3 shared Fábio C. P. NavarroiD· 3 shared Iñigo MartincorenaiD· 3 shared Jan O. KorbeliD· 3 shared Jeremiah A. WalaiD· 3 shared

Activity by Year

2018-2020 · peak 2/yr

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10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Ana Dueso-BarrosoORCID

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5 papers

Recent·Most cited

Genomic footprints of activated telomere maintenance mechanisms in cancer

Lina Sieverling, Chen Hong, Sandra D. Koser, Philip Ginsbach, Kortine Kleinheinz, Barbara Hutter, Delia M. Braun, Isidro Cortés‐Ciriano, Ruibin Xi, Rolf Kabbe, Peter J. Park, Roland Eils, Matthias Schlesner, PCAWG-Structural Variation Working Group, Kadir C. Akdemir, , Rehan Akbani

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

Nature Communications · Feb 5, 2020Peer-reviewedGenomics

Spatial Genome Organization as a Framework for Somatic Alterations in Human Cancer

Kadir Caner Akdemir, Victoria T. Le, Sahaana Chandran, Yilong Li, Roel G.W. Verhaak, Rameen Beroukhim, Peter J. Campbell, Lynda Chin, Jesse R. Dixon, P. Andrew Futreal, PCAWG Structural Variation Working Group, Kadir C. Akdemir, Eva G. Álvarez, Adrian Baez‐Ortega, Paul C. Boutros, , Ludmil B. Alexandrov

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

Nature Genetics · Feb 5, 2020Peer-reviewedGenomics

Resolving sub-clonal heterogeneity within cell-line growths by single cell sequencing genomic DNA

Enrique I. Velazquez-Villarreal, Shamoni Maheshwari, Jon M. Sorenson, Ian T. Fiddes, Vijay Kumar, Yifeng Yin, Michelle G. Webb, Claudia Catalanotti, Mira Grigorova, Paul A. Edwards, John David Carpten, David Wesley Craig

The paper uses single-cell sequencing of genomic DNA to resolve sub-clonal heterogeneity in the COLO829 cell line, identifying four major sub-clones and explaining conflicting bulk sequencing results.

bioRxiv · Sep 5, 2019 · PreprintGenomics

Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours

Bernardo Rodríguez–Martín, Eva G. Álvarez, Adrian Baez‐Ortega, Jorge Zamora, Fran Supek, Jonas Demeulemeester, Martín Santamarina, Young Seok Ju, Javier Temes, Daniel García Souto, Harald Detering, Yilong Li, Jorge Rodríguez‐Castro, Ana Dueso-Barroso, Alicia L. Bruzos, , the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

bioRxiv · Sep 7, 2018 · PreprintGenomics

Low-cost and clinically applicable copy number profiling using repeat DNA

Sam Abujudeh, Sebastian S. Zeki, MCV van Lanschot, Mark Pusung, Jamie M. J. Weaver, X Li, A Noorani, AJ Metz, Jan Bornschein, Lawrence Bower, Ahmad Miremadi, Rebecca Claire Fitzgerald, Edward R. Morrissey, Andy G. Lynch, Ayesha Noorani, , Richard Calvin Turkington

The paper introduces conliga, a method for inferring high-resolution SCNA profiles from a low-cost and simple assay, addressing the need for affordable SCNA analysis in clinical settings.

bioRxiv · Aug 19, 2018 · PreprintGenomics