Author
University of CambridgeORCID 0000-0002-8941-2620Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Iacopo Bicci, Claudia Calabrese, Zoe J. Golder, Aurora Gómez-Durán, Patrick Francis Chinnery
The paper develops a protocol using Oxford Nanopore Sequencing to accurately detect CpG methylation in human mtDNA, overcoming limitations of WGBS.
bioRxiv · Feb 20, 2021 · PreprintGenomics
Denisa Hathazi, Helen R Griffin, Matthew James Jennings, Michele Giunta, Christopher A. Powell, Sarah F. Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton, Angela Pyle, Claudia Calabrese, Aurora Gómez-Durán, Ulrike Schara, Robert D. S. Pitceathly, , Rita Horváth
The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.
The EMBO Journal · Oct 31, 2020Peer-reviewedGenetic & Genomic Medicine
Yiqun Zhang, Fengju Chen, Nuno A. Fonseca, Yao He, Masashi Fujita, Hidewaki Nakagawa, Zemin Zhang, Alvis Brāzma, PCAWG Transcriptome Working Group, Samirkumar B. Amin, Philip Awadalla, Peter J. Bailey, Alvis Brazma, Angela Norie Brooks, Claudia Calabrese, , Paul Alan Edwards
The paper identifies hundreds of genes deregulated by SVs in cancer, showing increased expression linked to SV breakpoints and enhancer elements.
Nature Communications · Feb 5, 2020Peer-reviewedGenomics
Deniz Demircioğlu, Martin Kindermans, Tannistha Nandi, Engin Cukuroglu, Claudia Calabrese, Nuno A. Fonseca, André Kahles, Kjong-Van Lehmann, Oliver Stegle, Alvis Brāzma, Angela Norie Brooks, Gunnar Rätsch, Patrick B. O. Tan, Jonathan Göke, and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network on behalf of the PCAWG Transcriptome Working Group
This study identifies alternative promoters as key regulators in the cancer transcriptome using RNA-Seq data from 1,188 cancer samples.
Cell · Sep 1, 2019Peer-reviewedGenomics
PCAWG Transcriptome Core Group, Claudia Calabrese, Natalie R. Davidson, Nuno A. Fonseca, Yao He, André Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M. Soulette, Lara Urban, Deniz Demircioğlu, Liliana Greger, Siliang Li, Dongbing Liu, , Zemin Zhang
The paper analyzes RNA alterations across 27 cancer types using whole-genome sequencing data, identifying gene expression associations with DNA variants and structural fusions.
bioRxiv · Mar 12, 2018 · PreprintGenomics
C Calabrese, K Lehmann, L Urban, F Liu, S Erkek, NA Fonseca, A Kahles, H Kilpinen, J Markowski, PCAWG Group 3, SM Waszak, JO Korbel, Z Zhang, A Brazma, G Rätsch, , O Stegle
This study analyzes whole genome and RNA-Seq data from 1,188 cancer patients to map the effects of somatic and germline genetic variation on gene expression in cancer.
bioRxiv · Nov 29, 2017 · PreprintCancer Biology