Author

Bernardo Rodriguez-Martin

Broad 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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Genomics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Organism:multiple species· 1

Frequent Co-Authors

Jan O. KorbeliD· 3 shared Mark GersteiniD· 3 shared Adam Abeshouse· 2 shared Adrian Baez‐OrtegaiD· 2 shared Alexander Martinez‐FundichelyiD· 2 shared Ana Dueso-BarrosoiD· 2 shared Andrew J DunfordiD· 2 shared Andy G. LynchiD· 2 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Jan O. KorbelORCID

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Author profile →

3 papers

Recent·Most cited

Impact and characterization of serial structural variations across humans and great apes

Wolfram Höps, Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine, Anna O. Basile, Christine R. Beck, Marc Jan Bonder, Marta Byrska-Bishop, Mark Chaisson, Zechen Chong, André Corvelo, Scott E. Devine, Peter Ebert, , Fritz J. Sedlazeck

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

Nature Communications · Sep 12, 2024Peer-reviewedBioinformatics

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

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Isidro Cortés-Ciriano, Jake June-Koo Lee, Ruibin Xi, Dhawal S. Jain, Youngsook Lucy Jung, Lixing Yang, Dmitry A. Gordenin, Leszek J. Klimczak, Cheng‐Zhong Zhang, David S. Pellman, PCAWG Structural Variation Working Group, Kadir Caner Akdemir, Eva G. Álvarez, Adrian Baez‐Ortega, Rameen Beroukhim, , 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.

Nature Genetics · Feb 5, 2020Peer-reviewedGenomics