Author
Broad InstituteORCID 0000-0002-6819-5647Unclaimed ORCID profile · follow to get notified of new preprints
9 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.
Barbara Tabak, Gordon Saksena, Coyin Oh…·Gad A. Getz
The paper introduces Tangent and Pseudo-Tangent pipelines for copy-number inference from cancer genome data, improving noise reduction and accuracy in SNP array and WES analyses.
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, Pratiti Bandopadhayay, Noah F. Greenwald…·Rameen Beroukhim
SvABA detects structural variants and indels using genome-wide local assembly, showing improved sensitivity and specificity, especially for small variants and complex rearrangements in cancer genomes.
Radhakrishnan Sabarinathan, Oriol Pich, Iñigo Martincorena…·on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
This paper identifies driver mutations across 2,500 tumors from 37 cancer types, revealing a whole-genome panorama of genomic events that underlie tumor development.
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.