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Results: 13026
Patterns of somatic structural variation in human cancer genomes.
Yilong Li, Nicola D Roberts, Jeremiah A Wala, Ofer Shapira, Steven E Schumacher, Kiran Kumar, Ekta Khurana, Sebastian Waszak, Jan O Korbel, James E Haber, Marcin Imielinski, PCAWG Structural Variation Working Group, Joachim Weischenfeldt, Rameen Beroukhim, Peter J Campbell, PCAWG Consortium
Feb 04, 2021
A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1-7. Here we develop methods to group...
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Yiqun Zhang, Fengju Chen, Nuno A Fonseca, Yao He, Masashi Fujita, Hidewaki Nakagawa, Zemin Zhang, Alvis Brazma, PCAWG Transcriptome Working Group, PCAWG Structural Variation Working Group, Chad J Creighton, PCAWG Consortium
Feb 04, 2021
The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing...
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.
Kadir C Akdemir, Victoria T Le, Sahaana Chandran, Yilong Li, Roel G Verhaak, Rameen Beroukhim, Peter J Campbell, Lynda Chin, Jesse R Dixon, P Andrew Futreal, PCAWG Structural Variation Working Group, PCAWG Consortium
Feb 04, 2021
Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating...
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, Benedikt Brors, Karsten Rippe, David TW Jones, Lars Feuerbach, PCAWG Consortium
Mar 05, 2021
Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA...
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.
Inferring structural variant cancer cell fraction.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M Corcoran, Tony Papenfuss, Christopher M Hovens, Florian Markowetz, Geoff Macintyre, PCAWG Consortium
Dec 18, 2019
We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV...
Butler enables rapid cloud-based analysis of thousands of human genomes.
Sergei Yakneen, Sebastian M Waszak, PCAWG Technical Working Group, Michael Gertz, Jan O Korbel, PCAWG Consortium
Feb 04, 2021
We present Butler, a computational tool that facilitates large-scale genomic analyses on public and academic clouds. Butler includes innovative anomaly detection and self-healing functions that improve the efficiency of data...
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Bernardo Rodriguez-Martin, Eva G Alvarez, Adrian Baez-Ortega, Jorge Zamora, Fran Supek, Jonas Demeulemeester, Martin Santamarina, Young Seok Ju, Javier Temes, Daniel Garcia-Souto, Harald Detering, Yilong Li, Jorge Rodriguez-Castro, Ana Dueso-Barroso, Alicia L Bruzos, Stefan C Dentro, Miguel G Blanco, Gianmarco Contino, Daniel Ardeljan, Marta Tojo, Nicola D Roberts, Sonia Zumalave, Paul A Edwards, Joachim Weischenfeldt, Montserrat Puiggròs, Zechen Chong, Ken Chen, Eunjung Alice Lee, Jeremiah A Wala, Keiran M Raine, Adam Butler, Sebastian M Waszak, Fabio CP Navarro, Steven E Schumacher, Jean Monlong, Francesco Maura, Niccolo Bolli, Guillaume Bourque, Mark Gerstein, Peter J Park, David C Wedge, Rameen Beroukhim, David Torrents, Jan O Korbel, Iñigo Martincorena, Rebecca C Fitzgerald, Peter Van Loo, Haig H Kazazian, Kathleen H Burns, PCAWG Structural Variation Working Group, Peter J Campbell, Jose MC Tubio, PCAWG Consortium
Jan 14, 2019
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from...
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Matthew H Bailey, William U Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C Wendl, David A Wheeler, Gad Getz, Jared T Simpson, Mark B Gerstein, Li Ding, PCAWG Consortium
Oct 12, 2020
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the...
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.
Yulia Rubanova, Ruian Shi, Caitlin F Harrigan, Roujia Li, Jeff Wintersinger, Nil Sahin, Amit G Deshwar, PCAWG Evolution and Heterogeneity Working Group, Quaid D Morris, PCAWG Consortium
Feb 04, 2021
The type and genomic context of cancer mutations depend on their causes. These causes have been characterized using signatures that represent mutation types that co-occur in the same tumours. However, it remains unclear how...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.
Wei Jiao, Gurnit Atwal, Paz Polak, Rosa Karlic, Edwin Cuppen, PCAWG Tumor Subtypes and Clinical Translation Working Group, Alexandra Danyi, Jeroen de Ridder, Carla van Herpen, Martijn P Lolkema, Neeltje Steeghs, Gad Getz, Quaid D Morris, Lincoln D Stein, PCAWG Consortium
May 14, 2020
In cancer, the primary tumour's organ of origin and histopathology are the strongest determinants of its clinical behaviour, but in 3% of cases a patient presents with a metastatic tumour and no obvious primary. Here, as part of...
Plain Radiographic Instruments for Structural Damage in Peripheral Joints in Psoriatic Arthritis
Anna Antony, Richard Holland, Ashish J. Mathew, Maria Antoinetta D'Agostino, Walter P. Maksymowych, Philip J. Mease, Niti Goel, Alexis Ogdie, Laura C. Coates, Vibeke Strand, Robin Christensen, Dafna D. Gladman, Ana Maria Orbai, Ying Ying Leung, William Tillett
Jun 01, 2022
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Core Set working group is focused on the development of a core set of...
Plain Radiographic Instruments for Structural Damage in Peripheral Joints in Psoriatic Arthritis
Anna Antony, Richard Holland, Ashish J. Mathew, Maria Antoinetta D'Agostino, Walter P. Maksymowych, Philip J. Mease, Niti Goel, Alexis Ogdie, Laura C. Coates, Vibeke Strand, Robin Christensen, Dafna D. Gladman, Ana Maria Orbai, Ying Ying Leung, William Tillett
Jun 01, 2022
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Core Set working group is focused on the development of a core set of...
Assessment of venous hemodynamics and volume homeostasis during pregnancy
Venous hemodynamics and volume homeostasis are important aspects of cardiovascular physiology. However, today their relevance is still very much underappreciated. Their most important role is maintenance and control of venous...
maternal hemodynamics plasma volume Pregnancy venous hemodynamics venous return volume homeostasis Blood Flow Velocity cardiac output Cardiovascular Physiological Phenomena Consensus Development Conferences as Topic Female Guidelines as Topic Hemodynamics Homeostasis Humans Maternal Health Pregnancy Pregnancy Complications Cardiovascular Prenatal Diagnosis Uterine Artery
Changing the name of diabetes insipidus
Working Group for Renaming Diabetes Insipidus, Hiroshi Arima, Timothy Cheetham, Mirjam Christ-Crain, Deborah Cooper, Mark Gurnell, Juliana B Drummond, Miles Levy, Ann I McCormack, Joseph Verbalis, John Newell-Price, John AH Wass
Nov 16, 2022
'What's in a name? That which we call a rose/By any other name would smell as sweet' (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word, and it therefore...
Working for the future
Tochukwu Nweze, Mary Basil Nwoke, Juliet Ifeoma Nwufo, Richard Ikechukwu Aniekwu, Florian Lange
Jun 12, 2020
BACKGROUND: The dominant view based on the deficit model of developmental psychopathology is that early adverse rearing impairs cognition. In contrast, an emerging evolutionary-developmental model argues that individuals exposed...
The repertoire of mutational signatures in human cancer.
Ludmil B Alexandrov, Jaegil Kim, Nicholas J Haradhvala, Mi Ni Huang, Alvin Wei Tian Ng, Yang Wu, Arnoud Boot, Kyle R Covington, Dmitry A Gordenin, Erik N Bergstrom, SM Ashiqul Islam, Nuria Lopez-Bigas, Leszek J Klimczak, John R McPherson, Sandro Morganella, Radhakrishnan Sabarinathan, David A Wheeler, Ville Mustonen, PCAWG Mutational Signatures Working Group, Gad Getz, Steven G Rozen, Michael R Stratton, PCAWG Consortium
Feb 04, 2021
Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 of...
Genomic basis for RNA alterations in cancer.
PCAWG Transcriptome Core Group, Claudia Calabrese, Natalie R Davidson, Deniz Demircioğlu, Nuno A Fonseca, Yao He, André Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M Soulette, Lara Urban, Liliana Greger, Siliang Li, Dongbing Liu, Marc D Perry, Qian Xiang, Fan Zhang, Junjun Zhang, Peter Bailey, Serap Erkek, Katherine A Hoadley, Yong Hou, Matthew R Huska, Helena Kilpinen, Jan O Korbel, Maximillian G Marin, Julia Markowski, Tannistha Nandi, Qiang Pan-Hammarström, Chandra Sekhar Pedamallu, Reiner Siebert, Stefan G Stark, Hong Su, Patrick Tan, Sebastian M Waszak, Christina Yung, Shida Zhu, Philip Awadalla, Chad J Creighton, Matthew Meyerson, BF Francis Ouellette, Kui Wu, Huanming Yang, PCAWG Transcriptome Working Group, Alvis Brazma, Angela N Brooks, Jonathan Göke, Gunnar Rätsch, Roland F Schwarz, Oliver Stegle, Zemin Zhang, PCAWG Consortium
Feb 04, 2021
Transcript alterations often result from somatic changes in cancer genomes1. Various forms of RNA alterations have been described in cancer, including overexpression2, altered splicing3 and gene fusions4; however, it is...
Integrative pathway enrichment analysis of multivariate omics data.
Marta Paczkowska, Jonathan Barenboim, Nardnisa Sintupisut, Natalie S Fox, Helen Zhu, Diala Abd-Rabbo, Miles W Mee, Paul C Boutros, PCAWG Drivers and Functional Interpretation Working Group, Jüri Reimand, PCAWG Consortium
Feb 04, 2021
Adenocarcinoma Apoptosis Breast Neoplasms Chromatin Immunoprecipitation Computational Biology Databases Factual Female Gene Dosage Gene Expression Profiling Gene Regulatory Networks Genomics Hippo Signaling Pathway Humans Metabolic Networks and Pathways Mutation Neoplasms Prognosis Protein Serine-Threonine Kinases RNA Messenger Sequence Analysis RNA Signal Transduction
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.
Esther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, Jeremiah A Wala, Ofer Shapira, Grace Tiao, Henrik Hornshøj, Julian M Hess, Randi Istrup Juul, Ziao Lin, Lars Feuerbach, Radhakrishnan Sabarinathan, Tobias Madsen, Jaegil Kim, Loris Mularoni, Shimin Shuai, Andrés Lanzós, Carl Herrmann, Yosef E Maruvka, Ciyue Shen, Samirkumar B Amin, Pratiti Bandopadhayay, Johanna Bertl, Keith A Boroevich, John Busanovich, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, David Craft, Priyanka Dhingra, Klev Diamanti, Nuno A Fonseca, Abel Gonzalez-Perez, Qianyun Guo, Mark P Hamilton, Nicholas J Haradhvala, Chen Hong, Keren Isaev, Todd A Johnson, Malene Juul, Andre Kahles, Abdullah Kahraman, Youngwook Kim, Jan Komorowski, Kiran Kumar, Sushant Kumar, Donghoon Lee, Kjong-Van Lehmann, Yilong Li, Eric Minwei Liu, Lucas Lochovsky, Keunchil Park, Oriol Pich, Nicola D Roberts, Gordon Saksena, Steven E Schumacher, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Chip Stewart, David Tamborero, Jose MC Tubio, Husen M Umer, Liis Uusküla-Reimand, Claes Wadelius, Lina Wadi, Xiaotong Yao, Cheng-Zhong Zhang, Jing Zhang, James E Haber, Asger Hobolth, Marcin Imielinski, Manolis Kellis, Michael S Lawrence, Christian von Mering, Hidewaki Nakagawa, Benjamin J Raphael, Mark A Rubin, Chris Sander, Lincoln D Stein, Joshua M Stuart, Tatsuhiko Tsunoda, David A Wheeler, Rory Johnson, Jüri Reimand, Mark Gerstein, Ekta Khurana, Peter J Campbell, Núria López-Bigas, PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, Joachim Weischenfeldt, Rameen Beroukhim, Iñigo Martincorena, Jakob Skou Pedersen, Gad Getz, PCAWG Consortium
Feb 04, 2021
The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer...
The GRAPPA-OMERACT Psoriatic Arthritis Working Group at the 2018 Annual Meeting
Ying Ying Leung, Ana-Maria Orbai, Alexis Ogdie, Laura C Coates, Maarten de Wit, Lihi Eder, Dafna D Gladman, Niti Goel, Philip J Mease, Vibeke Strand, Oliver FitzGerald, William Tillett
Jun 01, 2019
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Working Group reported at the 2018 GRAPPA annual meeting on the outcome...
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