Author
Wellcome Sanger InstituteORCID 0000-0002-0469-1043Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Lina Sieverling, Chen Hong, Sandra D. Koser…·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.
Kadir Caner Akdemir, Victoria T. Le, Sahaana Chandran…·Ludmil B. Alexandrov
The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.
Isidro Cortés-Ciriano, Jake June-Koo Lee, Ruibin Xi…·Kenneth Aldape
This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.
Bernardo Rodríguez–Martín, Eva G. Álvarez, Adrian Baez‐Ortega…·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.
Jeremiah A Wala, Ofer Shapira, Yilong Li…·on behalf of the PCAWG-Structural Variation Working Group and the PCAWG Network.
The paper analyzes somatic rearrangements in cancer genomes using whole-genome sequencing data, identifying recurrent breakpoints and their genomic features.
Yilong Li, Nicola D Roberts, Joachim Weischenfeldt…·and the PCAWG Network
The paper identifies nine structural variation signatures in cancer genomes, revealing patterns of deletions, tandem duplications, and translocations linked to replication mechanisms and oncogenic activation.