pypi: CNVkit | Projects | Ecosyste.ms: Papers

10.1007/s00401-020-02226-7

Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology
Cited by: 69
Author(s): Anna Golebiewska, Ann-Christin Hau, Anaïs Oudin, Daniel Stieber, Yahaya A Yabo, Virginie Baus, Vanessa Barthelemy, Eliane Klein, Sébastien Bougnaud, Olivier Keunen, May Wantz, Alessandro Michelucci, Virginie Neirinckx, Arnaud Muller, Tony Kaoma, Petr V. Nazarov, Francisco Azuaje, Alfonso De Falco, Ben Flies, Lorraine Richart, Suresh Poovathingal, Thaís Arns, Kamil Grzyb, Andreas Möck, Christel Herold‐Mende, Anne Steinø, Dennis Brown, Patrick May, Hrvoje Miletić, Tathiane M. Malta, Houtan Noushmehr, Yong-Jun Kwon, Winnie Jahn, Barbara Klink, Georgette Tanner, Lucy F. Stead, Michel Mittelbronn, Alexander Skupin, Frank Hutter, Rolf Bjerkvig, Simone P. Niclou
Software Mentions: 12
Published: about 4 years ago

10.1186/s13058-021-01451-6

Transcriptome and genome evolution during HER2-amplified breast neoplasia
Cited by: 3
Author(s): Peipei Lu, Joseph W. Foley, Chunfang Zhu, Katherine McNamara, Korsuk Sirinukunwattana, Sujay Vennam, Sushama Varma, Hamid Fehri, Arunima Srivastava, Shirley Zhu, Jens Rittscher, Parag Mallick, Christina Curtis, Robert B. West
Software Mentions: 11
Published: over 3 years ago

10.1038/s41422-020-00451-z

Sequential fate-switches in stem-like cells drive the tumorigenic trajectory from human neural stem cells to malignant glioma
Cited by: 38
Author(s): Xiaofei Wang, Ran Zhou, Yanzhen Xiong, Lingling Zhou, Xiang Yan, Manli Wang, Li Fan, Chuanxing Xie, Yiming Zhang, Zongyao Huang, Chaoqiong Ding, Ke Shi, Weida Li, Liu Yu, Cao Zeyi, Zhenning Zhang, Shengtao Zhou, Chong Chen, Yan Zhang, Lu Chen, Yuan Wang
Software Mentions: 10
Published: almost 4 years ago

10.3390/cancers13020230

A Set of Cell Lines Derived from a Genetic Murine Glioblastoma Model Recapitulates Molecular and Morphological Characteristics of Human Tumors
Cited by: 10
Author(s): Bárbara Costa, Michael Fletcher, Pavle Boskovic, Ekaterina Ivanova, Tanja Eisemann, Sabrina Lohr, Lukas Bunse, Martin Löwer, Stefanie Burchard, Andrey Korshunov, Nadia Coltella, Melania Cusimano, Luigi Naldini, Hai-Kun Liu, Michael Platten, Bernhard Radlwimmer, Peter Angel, Heike Peterziel
Software Mentions: 10
Published: almost 4 years ago

10.1186/s13059-021-02316-z

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency
Cited by: 24
Author(s): Wendell Jones, Binsheng Gong, Natalia Novoradovskaya, Dan Li, Rebecca Kusko, Todd Richmond, Donald J. Johann, Halil Bişğin, Sayed Mohammad Ebrahim Sahraeian, Pierre R. Bushel, Mehdi Pirooznia, Katherine Wilkins, Marco Chierici, Wenjun Bao, Lee S Basehore, Anne Bergstrom Lucas, Daniel L. Burgess, Daniel Butler, Simon Cawley, Chia Jung Chang, Guangchun Chen, Tao Chen, Yun Ching Chen, Daniel J. Craig, Ángela del Pozo, Jonathan Foox, Margherita Francescatto, Yutao Fu, Cesare Furlanello, Kristina Giorda, Kira P. Grist, Meijian Guan, You-Zeng Hao, Scott Happe, Gunjan Hariani, Nathan Haseley, Jeff S. Jasper, Giuseppe Jurman, David P. Kreil, Paweł P. Łabaj, Kevin Lai, Jianying Li, Quan Zhen Li, Yulong Li, Chi Kong Li, Zhichao Liu, Mario Solís-López, Kelci Miclaus, Raymond D. Miller, Vinay Kumar Mittal, Marghoob Mohiyuddin, Carlos Pabón-Peña, Barbara L. Parsons, Fujun Qiu, Andreas Scherer, Tieliu Shi, Suzy M. Stiegelmeyer, Chen Suo, Nikola Tom, Dong Wang, Zhining Wen, Leihong Wu, Wenzhong Xiao, Chang Xu, Ying Yu, Jiyang Zhang, Yifan Zhang, Zhihong Zhang, Yuanting Zheng, Christopher E. Mason, James C. Willey, Leming Shi, Joshua Xu
Software Mentions: 10
Published: over 3 years ago

10.7150/jca.56005

Integrated Genomic and Transcriptomic Analysis reveals key genes for predicting dual-phenotype Hepatocellular Carcinoma Prognosis
Cited by: 6
Author(s): Yaobang Wang, Xi Wang, Xiaoliang Huang, Jie Zhang, Jinwen Hu, Yinliang Qi, Bang‐De Xiang, Qiuyan Wang
Software Mentions: 9
Published: almost 4 years ago

10.1371/journal.pcbi.1004873

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Cited by: 1,141
Author(s): Eric Talevich, A. Hunter Shain, Thomas Botton, Boris C. Bastian
Software Mentions: 9
Published: over 8 years ago

10.3390/cancers13061212

Comparison of Structural and Short Variants Detected by Linked-Read and Whole-Exome Sequencing in Multiple Myeloma
Cited by: 3
Author(s): Ashwini Kumar, Sadiksha Adhikari, Matti Kankainen, Caroline A. Heckman
Software Mentions: 8
Published: over 3 years ago

10.1038/s41598-020-61643-6

Whole genome analysis identifies the association of TP53 genomic deletions with lower survival in Stage III colorectal cancer
Cited by: 7
Author(s): Xia Li, Paul Van Hummelen, Matthew Kubit, Ho‐Joon Lee, John Bell, Susan M. Grimes, Christina Wood-Bouwens, Stephanie Greer, Tyler Barker, Derrick S. Haslem, James M. Ford, Gail Fulde, Hanlee P. Ji, Lincoln Nadauld
Software Mentions: 8
Published: over 4 years ago

10.1038/s10038-019-0687-0

Visualization tools for human structural variations identified by whole-genome sequencing
Cited by: 8
Author(s): Toshiyuki Yokoyama, Masahiro Kasahara
Software Mentions: 7
Published: about 5 years ago

10.1186/s13058-020-01379-3

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences
Cited by: 19
Author(s): Nolan Priedigkeit, Kai Ding, William Horne, Jay K. Kolls, Tian Du, Peter C. Lucas, Jens-Uwe Blohmer, Carsten Denkert, A Machleidt, Barbara Ingold-Heppner, Steffi Oesterreich, Adrian V. Lee
Software Mentions: 7
Published: almost 4 years ago

10.1371/journal.pgen.1009201

Genomic and transcriptomic landscape of conjunctival melanoma
Cited by: 14
Author(s): Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini Gobert, Virginie G. Peter, Béryl Royer‐Bertrand, Léonidas Zografos, Ann Schalenbourg, Michaël Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre Moulin, Carlo Rivolta
Software Mentions: 7
Published: almost 4 years ago

10.3390/cancers13061296

Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines
Cited by: 3
Author(s): Setor Amuzu, Eurı́dice Carmona, Anne-Marie Mes-Masson, Celia M.T. Greenwood, Patricia N. Tonin, Jiannis Ragoussis
Software Mentions: 7
Published: over 3 years ago

10.1038/s41598-021-98414-w

Integrated genomics point to immune vulnerabilities in pleural mesothelioma
Cited by: 7
Author(s): Anca Năstase, Amit Kumar Mandal, Shir Kiong Lu, Hima Anbunathan, Deborah Morris-Rosendahl, Yu Zhi Zhang, Xiaoming Sun, Spyridon Gennatas, Robert C. Rintoul, Matthew Edwards, Alex Bowman, Tatyana Chernova, T. Benepal, Eric Lim, Alison Taylor, Andrew G. Nicholson, Sanjay Popat, Anne E. Willis, Marion MacFarlane, Mark Lathrop, Anne M. Bowcock, Miriam F. Moffatt, William Cookson
Software Mentions: 6
Published: about 3 years ago

10.1038/s41392-020-00437-8

CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
Cited by: 72
Author(s): Yan‐Jiun Huang, Kedan Cai, Pengpeng Xu, Li Wang, Chuanxin Huang, Ying Fang, Shu Cheng, Xiao Jian Sun, Feng Liu, Jinyan Huang, Mengmeng Ji, Wei‐Li Zhao
Software Mentions: 6
Published: almost 4 years ago

10.1093/gigascience/giz037

GenPipes: an open-source framework for distributed and scalable genomic analyses
Cited by: 107
Author(s): Mathieu Bourgey, Rola Dali, Robert Eveleigh, Kuang Chung Chen, Louis Létourneau, Joël Fillon, Marc Michaud, Maxime Caron, Johanna Sandoval, François Lefebvre, Gary Leveque, Eloi Mercier, David Bujold, Pascale Marquis, Patrick Tran Van, David Anderson de Lima Morais, Julien Tremblay, Xiaojian Shao, Édouard Henrion, Emmanuel González, Pierre-Olivier Quirion, B. Caron, Guillaume Bourque
Software Mentions: 6
Published: over 5 years ago

10.1186/s13046-021-02034-1

Immuno-genomic classification of colorectal cancer organoids reveals cancer cells with intrinsic immunogenic properties associated with patient survival
Cited by: 14
Author(s): Eun Jeong Cho, Minsuh Kim, Daum Jo, Jihye Kim, Ji-Hye Oh, Hee Chul Chung, Sun-Hye Lee, Deokhoon Kim, Sung Chun, Jihun Kim, Hyeonjin Lee, Tae Won Kim, Chang Sik Yu, Chang‐Keun Sung, Se Jin Jang
Software Mentions: 6
Published: over 3 years ago

10.1007/s13577-021-00492-5

Establishment and characterization of 38 novel patient-derived primary cancer cell lines using multi-region sampling revealing intra-tumor heterogeneity of gallbladder carcinoma
Cited by: 5
Author(s): Feiling Feng, Qiang Cheng, Bin Li, Chen Liu, Huizhen Wang, Xiang Xu, Yang Yu, Zishuo Chen, Xiaobing Wu, Dong Hua, Kai-Jian Chu, Zhenghua Xie, Qingxiang Gao, Lei Xiong, Fugen Li, Bin Yi, Dadong Zhang, Xiaoqing Jiang
Software Mentions: 5
Published: over 3 years ago

10.1186/s13059-021-02417-9

Elevated retrotransposon activity and genomic instability in primed pluripotent stem cells
Cited by: 10
Author(s): Haifeng Fu, Weiyu Zhang, Niannian Li, Jiao Yang, Xiaoying Ye, Chenglei Tian, Xinyi Lu, Lin Liu
Software Mentions: 5
Published: over 3 years ago

10.7717/peerj.10897

Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application
Cited by: 4
Author(s): Jakub Hynšt, Veronika Navrkalová, Karol Pál, Šárka Pospı́šilová
Software Mentions: 5
Published: over 3 years ago

10.1038/s41598-019-40786-1

Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures
Cited by: 18
Author(s): M. Schroêder, Lorenz Bastian, Cornelia Eckert, Nicola Gökbuget, Alva Rani James, Jutta Ortiz Tanchez, Cornelia Schlee, Konstandina Isaakidis, Björn Häupl, Katharina Baum, Oscar Arturo Migueles Lozano, Khouloud Kouidri, Kuan‐Ting Pan, Henning Urlaub, Stefan Schwartz, Thomas Burmeister, Arend von Stackelberg, Dieter Hoelzer, Heike Pfeiffer, Michael A. Rieger, Stefanie Göllner, Thomas Oellerich, Martin Horstman, Martin Schrappe, Jana Wolf, Renate Kirschner-Schwabe, Monika Brüggemann, Carsten Müller‐Tidow, Hubert Serve, Martin Neumann, Claudia D. Baldus
Software Mentions: 5
Published: over 5 years ago

10.3390/genes11050499

Unmasking Intra-Tumoral Heterogeneity and Clonal Evolution in NF1-MPNST
Cited by: 2
Author(s): Chang In Moon, William Tompkins, Yuxi Wang, Abigail Godec, Xiaochun Zhang, Patrik Pipkorn, Christopher A. Miller, Carina Dehner, Sonika Dahiya, Angela C. Hirbe
Software Mentions: 5
Published: over 4 years ago

10.1186/s12885-021-08635-5

Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia
Cited by: 12
Author(s): Wencke Walter, Rabia Shahswar, Anna Stengel, Manja Meggendorfer, Wolfgang Kern, Torsten Haferlach, Claudia Haferlach
Software Mentions: 5
Published: over 3 years ago

10.1038/s12276-021-00583-1

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer
Cited by: 11
Author(s): Jeong Eun Kim, Jaeyong Choi, Chang Ohk Sung, Yong Sang Hong, Sun Young Kim, Hyunjung Lee, Tae Won Kim, Jong‐Il Kim
Software Mentions: 4
Published: over 3 years ago

10.1038/s41598-020-76137-8

Evolution from adherent to suspension: systems biology of HEK293 cell line development
Cited by: 41
Author(s): Magdalena Malm, Rasool Saghaleyni, Magnus Lundqvist, Marco Giudici, Véronique Chotteau, Ray Field, Paul Varley, Diane Hatton, Luigi Grassi, Thomas Svensson, Jens Nielsen, Johan Rockberg
Software Mentions: 4
Published: about 4 years ago

10.1016/j.cell.2018.03.043

Deterministic Evolutionary Trajectories Influence Primary Tumor Growth: TRACERx Renal
Cited by: 436
Author(s): Samra Turajlic, Hang Xu, Kevin Litchfield, Andrew Rowan, Stuart Horswell, Tim Chambers, Tim O’Brien, José I. López, Thomas B.K. Watkins, David Nicol, Mark Stares, Ben Challacombe, Steve Hazell, Ashish Chandra, Thomas J. Mitchell, Lewis Au, Claudia Eichler-Jonsson, Faiz Jabbar, Aspasia Soultati, Simon Chowdhury, Sarah Rudman, Joanna Lynch, A. Fernando, Gordon Stamp, Emma Nye, Aengus Stewart, Xing Wei, Jonathan C. Smith, Mickael Escudero, Adam Huffman, Nik Matthews, Greg Elgar, Ben Phillimore, Marta Costa, Sharmin Begum, Sophia Ward, Max Salm, Stefan Boeing, Rosalie Fisher, Lavinia Spain, Carolina Navas, Eva Grönroos, Sebastijan Hobor, Sarkhara Sharma, Ismaeel Aurangzeb, Sharanpreet Lall, Alexander Polson, Mary Varia, Catherine Horsfield, Nicos Fotiadis, Lisa Pickering, Roland F. Schwarz, Bruno Silva, Javier Herrero, Nick M. Luscombe, Mariam Jamal‐Hanjani, Rachel Rosenthal, Nicolai J. Birkbak, Gareth A. Wilson, Orsolya Pipek, Dezső Ribli, Marcin Krzystanek, István Csabai, Zoltan Szállási, Martin Gore, Nicholas McGranahan, Peter Van Loo, Peter J. Campbell, James Larkin, Charles Swanton
Software Mentions: 4
Published: over 6 years ago

10.1038/s41598-021-93878-2

Benchmarking germline CNV calling tools from exome sequencing data
Cited by: 27
Author(s): Veronika Gordeeva, Е. И. Шарова, Konstantin Babalyan, Rinat Sultanov, Vadim M. Govorun, Georgij Arapidi
Software Mentions: 4
Published: over 3 years ago

10.26508/lsa.202101135

UVB mutagenesis differs in Nras- and Braf-mutant mouse models of melanoma
Cited by: 7
Author(s): Robert L. Bowman, Rebecca C. Hennessey, Tirzah J. Weiss, David Tallman, Emma R. Crawford, Brandon Murphy, Amy Webb, Souhui Zhang, Krista M. La Perle, Craig J. Burd, Ross L. Levine, A. Hunter Shain
Software Mentions: 4
Published: over 3 years ago

10.3390/cancers13174305

The Microenvironment of Small Intestinal Neuroendocrine Tumours Contains Lymphocytes Capable of Recognition and Activation after Expansion
Cited by: 5
Author(s): Tobias Hofving, Frank Liang, Jan Ch Karlsson, Ulf Yrlid, Jonas A. Nilsson, Ola Nilsson, Lisa M. Nilsson
Software Mentions: 4
Published: about 3 years ago

10.1038/s41598-021-94292-4

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
Cited by: 7
Author(s): Yoon Young Choi, Su‐Jin Shin, Jae Eun Lee, Lisa Madlensky, Seung Tae Lee, Ji Soo Park, Jeong-Hyeon Jo, Hyun Ki Kim, Daniela Nachmanson, Xiaojun Xu, Sung Hoon Noh, Jae‐Ho Cheong, Olivier Harismendy
Software Mentions: 4
Published: over 3 years ago

10.1038/s41598-018-35506-0

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Cited by: 54
Author(s): Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia Kraus, Arif B. Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita Rauch, Frank Edenhofer, Jürgen Winkler, Beate Winner, André Reis
Software Mentions: 4
Published: almost 6 years ago

10.1200/JCO.19.00577

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma
Cited by: 44
Author(s): Matthias Begemann, Sebastian M. Waszak, Giles Robinson, Natalie Jäger, Tanvi Sharma, Cordula Knopp, Florian Kraft, Olga Moser, Martin Mynarek, Léa Guerrini-Rousseau, Laurence Brugières, Pascale Varlet, Torsten Pietsch, Daniel C. Bowers, Murali Chintagumpala, Felix Sahm, Jan O. Korbel, Stefan Rutkowski, Thomas Eggermann, Amar Gajjar, Paul A. Northcott, Miriam Elbracht, Stefan M. Pfister, Udo Kontny, Ingo Kurth
Software Mentions: 4
Published: almost 5 years ago

10.1186/s12859-019-2889-z

Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance
Cited by: 12
Author(s): Wiktor Kuśmirek, Agnieszka Szmurło, Marek Wiewiórka, Robert Nowak, Tomasz Gambin
Software Mentions: 4
Published: over 5 years ago

10.1172/jci.insight.146351

Chromosome 8 gain is associated with high-grade transformation in MPNST
Cited by: 20
Author(s): Carina Dehner, Chang In Moon, Zhang Xi-yuan, Zhiyong Zhou, Chris Miller, Hui Xu, Xiaodan Wan, Kuangying Yang, R. Jay Mashl, Sara J.C. Gosline, Yuxi Wang, Xiaochun Zhang, Abigail Godec, Paul A. Jones, Sonika Dahiya, Himanshi Bhatia, Tina Primeau, Shunqiang Li, Kai Pollard, Fausto J. Rodríguez, Ding Li, Christine A. Pratilas, Jack F. Shern, Angela C. Hirbe
Software Mentions: 4
Published: over 3 years ago

10.1186/s12920-020-00820-y

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens
Cited by: 4
Author(s): Daniela Nachmanson, J. S. Steward, Huazhen Yao, Adam Officer, Eliza Jeong, Thomas J. O’Keefe, Farnaz Hasteh, Kristen Jepsen, Gillian L. Hirst, Laura J. Esserman, Alexander D. Borowsky, Olivier Harismendy
Software Mentions: 4
Published: almost 4 years ago

10.3390/cancers13102389

Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data
Cited by: 5
Author(s): Yun Mi Choi, Jinyeong Lim, Min Ji Jeon, Yu‐Mi Lee, Tae‐Yon Sung, Eun‐Gyoung Hong, Jiyoung Lee, Se Jin Jang, Won Gu Kim, Dong Eun Song, Sung-Min Chun
Software Mentions: 4
Published: over 3 years ago

10.3390/cancers12123839

3′RNA Sequencing Accurately Classifies Formalin-Fixed Paraffin-Embedded Uterine Leiomyomas
Cited by: 9
Author(s): Miika Mehine, Sara Khamaiseh, Terhi Ahvenainen, Tuomas Heikkinen, Anna Äyräväinen, Päivi Pakarinen, Päivi Härkki, Annukka Pasanen, Ralf Bützow, Pia Vahteristo
Software Mentions: 4
Published: almost 4 years ago

10.1093/gigascience/giaa121

Unifying package managers, workflow engines, and containers: Computational reproducibility with BioNix
Cited by: 5
Author(s): Justin Bedő, Leon Di Stefano, Anthony T. Papenfuss
Software Mentions: 3
Published: about 4 years ago

10.18632/aging.202853

Comprehensive analysis of genomic and immunological profiles in Chinese and Western hepatocellular carcinoma populations
Cited by: 4
Author(s): Wei Li, Hong Wu, Xuewen Xu, Zhang Yange
Software Mentions: 3
Published: over 3 years ago

10.1186/s12859-020-3397-x

CNV Radar: an improved method for somatic copy number alteration characterization in oncology
Cited by: 8
Author(s): David Soong, Jeran K. Stratford, Hervé Avet‐Loiseau, Nizar J. Bahlis, Faith E. Davies, Angela Dispenzieri, A. Kate Sasser, Jordan M. Schecter, Ming Qi, Chad Brown, Wendell Jones, Jonathan J. Keats, Daniel Auclair, Christopher Chiu, Jason Powers, Michael Schäffer
Software Mentions: 3
Published: over 4 years ago

10.1186/s12859-020-3421-1

Comparative study of whole exome sequencing-based copy number variation detection tools
Cited by: 32
Author(s): Lanling Zhao, Lina Han, Xiguo Yuan, Kun Gao, Junbo Duan
Software Mentions: 3
Published: over 4 years ago

10.1186/s12864-021-07907-5

Genomic signatures of natural selection at phenology-related genes in a widely distributed tree species Fagus sylvatica L
Cited by: 5
Author(s): Joanna Meger, Bartosz Ulaszewski, Jarosław Burczyk
Software Mentions: 3
Published: over 3 years ago

10.1007/s10549-018-4798-7

FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment
Cited by: 6
Author(s): Anna Wilkins, Ritika Chauhan, Alistair G. Rust, Alex Pearson, Frances Daley, Floriana Manodoro, Kerry Fenwick, Judith Bliss, John Yarnold, Navita Somaiah
Software Mentions: 3
Published: over 6 years ago

10.1371/journal.pone.0248886

Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes
Cited by: 11
Author(s): Adrián Mosquera Orgueira, Roi Ferreiro Ferro, José Ángel Díaz Arias, Cristina Santos, Beatriz Antelo Rodríguez, Laura Bao Pérez, Natalia Alonso Vence, Ággeles Bendaña López, Ayelén Melisa Blanco, Paula Melero Valentín, And Res Peleteiro Raindo, Marcos Pérez López, Manuel Mateo Pérez Encinas, Marta Sonia González Pérez, Marianela Rodríguez, José Luis Bello López
Software Mentions: 3
Published: over 3 years ago

10.3390/cancers12051178

The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis
Cited by: 10
Author(s): Megan Crumbaker, Eva Chan, Ting-Ting Gong, Niall M. Corcoran, Weerachai Jaratlerdsiri, Ruth J. Lyons, Anne‐Maree Haynes, Anna Kulidjian, Anton M.F. Kalsbeek, Desiree C. Petersen, Phillip D. Stricker, Christina Jamieson, Peter I. Croucher, Christopher M. Hovens, Anthony M. Joshua, Vanessa M. Hayes
Software Mentions: 3
Published: over 4 years ago

10.3390/cancers13040649

Mutational Landscape of Virus- and UV-Associated Merkel Cell Carcinoma Cell Lines Is Comparable to Tumor Tissue
Cited by: 15
Author(s): Kai Horny, Patricia Gerhardt, Angela Hebel-Cherouny, Corinna Wülbeck, Jochen Utikal, Jürgen C. Becker
Software Mentions: 3
Published: almost 4 years ago

10.3390/cancers13092044

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History
Cited by: 4
Author(s): Sara Franceschi, Prospero Civita, Francesco Pasqualetti, Francesca Lessi, Martina Modena, Serena Barachini, Maria Sole Morelli, Orazio Santonocito, Riccardo Vannozzi, Geoffrey J. Pilkington, Valerio Ortenzi, Antonio Giuseppe Naccarato, Paolo Aretini, Chiara Maria Mazzanti
Software Mentions: 3
Published: over 3 years ago

10.3389/fgene.2020.568052

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia
Cited by: 7
Author(s): Xinmiao Fan, Ping Lu, Hao Sun, Yu‐Shan Chen, Pu Wang, Tao Liu, Rui Jiang, Xuegong Zhang, Xiaowei Chen
Software Mentions: 3
Published: about 4 years ago

10.3389/fnins.2019.01324

A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases
Cited by: 4
Author(s): Allen Chi Shing Yu, Aldrin Kay-Yuen Yim, Anna Chan, Liz Y P Yuen, Wing Chi Au, Timothy Cheng, Xiao Lin, Jing‐Woei Li, Larry Wl Chan, Vincent Chung Tong Mok, Ting-Fung Chan, Ho Yin Chan
Software Mentions: 3
Published: almost 5 years ago

10.1186/s13073-021-00958-z

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8
Cited by: 6
Author(s): Giwon Shin, Stephanie Greer, Erik Hopmans, Susan M. Grimes, HoJoon Lee, Liang Zhao, Laura Miotke, Carlos J. Suarez, Alison Almeda, Sigurdís Haraldsdóttir, Hanlee P. Ji
Software Mentions: 3
Published: about 3 years ago

10.1038/s41598-021-94064-0

Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma
Cited by: 3
Author(s): Hayriye V. Erkizan, Shrey Sukhadia, Thanemozhi G. Natarajan, Gustavo Mariño, Vicente Notario, Jack H. Lichy, Robert G. Wadleigh
Software Mentions: 3
Published: over 3 years ago

10.1038/s41598-021-98084-8

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients
Cited by: 1
Author(s): Woo Seung Lee, Junwon Lee, Jun‐Chul Choi, Hyun Goo Kang, Sung Chul Lee, Ju Han Kim
Software Mentions: 3
Published: about 3 years ago

10.1038/s41392-020-00448-5

Personalized neoantigen pulsed dendritic cell vaccine for advanced lung cancer
Cited by: 94
Author(s): Zhenyu Ding, Qing Li, Rui Zhang, Li Xie, Yang Shu, Song Gao, Peipei Wang, Xianwei Su, Yun Qin, Yuelan Wang, Jun Fang, Zhongzheng Zhu, Xuyang Xia, Guochao Wei, Hui Wang, Hong Qian, Xianling Guo, Zhibo Gao, Yu Wang, Yuquan Wei, Qing Xu, Hong‐Xi Xu, Li Yang
Software Mentions: 3
Published: almost 4 years ago

10.1002/sctm.19-0396

Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration
Cited by: 11
Author(s): Sandra Petrus‐Reurer, Pankaj Kumar, Sara Padrell Sánchez, Monica Aronsson, Helder André, Hammurabi Bartuma, Álvaro Plaza Reyes, Emeline F. Nandrot, Anders Kvanta, Fredrik Lanner
Software Mentions: 3
Published: over 4 years ago

10.1016/j.jhep.2018.06.009

Mutational landscape of a chemically-induced mouse model of liver cancer
Cited by: 92
Author(s): Frances Connor, Tim Rayner, Sarah J. Aitken, Christine Feig, Margus Lukk, Javier Santoyo-López, Duncan T. Odom
Software Mentions: 3
Published: about 6 years ago

10.18632/oncotarget.15802

Next generation mapping reveals novel large genomic rearrangements in prostate cancer
Cited by: 38
Author(s): Weerachai Jaratlerdsiri, Eva Chan, Desiree C. Petersen, Claire C. Yang, Peter I. Croucher, M. S. Bornman, Palak Sheth, Vanessa M. Hayes
Software Mentions: 3
Published: over 7 years ago

10.1002/cjp2.172

Loss of <scp>NF2</scp> defines a genetic subgroup of <scp>non‐FOS</scp>‐rearranged osteoblastoma
Cited by: 9
Author(s): Karim H. Saba, Louise Cornmark, Jakob Hofvander, Linda Magnusson, Jenny Nilsson, Hilda van den Bos, Diana C. J. Spierings, Floris Foijer, Johan Staaf, Otte Brosjö, Vaiyapuri P. Sumathi, Suk Wai Lam, Károly Szuhai, Judith V.M.G. Bovée, Michal Kováč, Daniel Baumhoer, Emelie Styring, Karolin Hansén Nord
Software Mentions: 3
Published: over 4 years ago

10.1186/s12920-018-0404-4

Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model
Cited by: 2
Author(s): Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin, Nigel F. Delaney
Software Mentions: 2
Published: about 6 years ago

10.3390/cancers13174430

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
Cited by: 7
Author(s): Greet Wieme, J Král, Toon Rosseel, Petra Zemánková, Bram Parton, Michal Vočka, Mattias Van Heetvelde, Petra Kleiblová, Bettina Blaumeiser, Jana Soukupová, Jenneke van den Ende, Petr Nehasil, Sabine Tejpar, Marianna Borecká, Encarna B. Gómez García, Marinus J. Blok, Markéta Šafaříková, Marta Kalousová, Karen Geboes, Robin De Putter, Bruce Poppe, Kim De Leeneer, Zdeněk Kleibl, Markéta Janatová, Kathleen Claes
Software Mentions: 2
Published: about 3 years ago

10.1186/s12940-018-0387-9

Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers
Cited by: 9
Author(s): Juhi Ojha, Iryna Dyagil, Stuart C. Finch, Robert F. Reiss, Adam J. de Smith, Semira Gonseth, Mi Zhou, Helen M. Hansen, Amy L. Sherborne, Jean L. Nakamura, Paige M. Bracci, Nataliya Gudzenko, Maureen Hatch, Nataliya Babkina, Mark P. Little, Vadim Chumak, Kyle M. Walsh, Dimitry Bazyka, Joseph L. Wiemels, Lydia B. Zablotska
Software Mentions: 2
Published: over 6 years ago

10.1172/JCI121924

Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer
Cited by: 148
Author(s): Daniel Nava Rodrigues, Pasquale Rescigno, David Liu, Wei Yuan, Suzanne Carreira, Maryou Lambros, George Seed, Joaquín Mateo, Ruth Riisnaes, Stephanie A. Mullane, Claire A. Margolis, Diana Miao, Susana Miranda, David Dolling, Matthew Clarke, Claudia Bertan, Mateus Crespo, Gunther Boysen, Ana Ferreira, Adam Sharp, Ines Figueiredo, Daniel Keliher, Saud H. AlDubayan, Kelly P. Burke, Semini Sumanasuriya, Mariane Fontes, Diletta Bianchini, Zafeiris Zafeiriou, Larissa Sena Teixeira Mendes, Kent W. Mouw, Michael T. Schweizer, Colin C. Pritchard, Stephen J. Salipante, Mary‐Ellen Taplin, Himisha Beltran, Mark A. Rubin, Marcin Cieślik, Dan R. Robinson, E. Heath, Nikolaus Schultz, Joshua Armenia, Wassim Abida, Howard I. Scher, Christopher J. Lord, Alan D. D’Andrea, Charles L. Sawyers, Arul M. Chinnaiyan, Andrea Alimonti, Peter S. Nelson, Charles G. Drake, Eliezer M. Van Allen, Johann S. de Bono
Software Mentions: 2
Published: about 6 years ago

10.1530/EJE-19-0771

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Cited by: 20
Author(s): Lana Stavber, Tinka Hovnik, Primož Kotnik, Luca Lovrečić, Jernej Kovač, Tine Tesovnik, Sara Bertok, Klemen Dovč, Maruša Debeljak, Tadej Battelino, Magdalena Avbelj Stefanija
Software Mentions: 2
Published: over 4 years ago

10.3389/fonc.2020.01634

Diagnostic Accuracy and Safety of Coaxial System in Oncology Patients Treated in a Specialist Cancer Center With Prospective Validation Within Clinical Trial Data
Cited by: 2
Author(s): Khurum Khan, Reyes Gonzalez-Exposito, David Cunningham, Dow‐Mu Koh, Andrew Woolston, Louise J. Barber, Beatrice Griffiths, Kyriakos Kouvelakis, V. Calamai, Monia Bali, Nasir Khan, Annette Bryant, Claire Saffery, Charles Dearman, Ruwaida Begum, Rao S, Naureen Starling, David Watkins, Ian Chau, Chiara Braconi, Nicola Valeri, Marco Gerlinger, Nicos Fotiadis
Software Mentions: 2
Published: about 4 years ago

10.1038/s41416-019-0550-2

Establishment and characterisation of a new patient-derived model of myxoid liposarcoma with acquired resistance to trabectedin
Cited by: 7
Author(s): Ezia Bello, Silvia Brich, Ilaria Craparotta, Laura Mannarino, Sara Ballabio, Raffaella Gatta, Sergio Marchini, Laura Carrassa, Cristina Matteo, Roberta Sanfilippo, Alessandro Gronchi, Paolo G. Casali, Silvana Pilotti, Maurizio D’Incalci, Roberta Frapolli
Software Mentions: 2
Published: about 5 years ago

10.1371/journal.pone.0238245

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
Cited by: 24
Author(s): Marcel Kucharík, Andrej Gnip, Michaela Hýblová, Jaroslav Budiš, Lucia Striešková, Mária Haršányová, Zuzana Pös, Zuzana Kubiritova, Ján Radvánszky, Gabriel Minárik, Tomáš Szemes
Software Mentions: 2
Published: about 4 years ago

10.3390/cancers13092229

Cell-Free DNA Analysis by Whole-Exome Sequencing for Hepatocellular Carcinoma: A Pilot Study in Thailand
Cited by: 13
Author(s): Pattapon Kunadirek, Natthaya Chuaypen, Piroon Jenjaroenpun, Thidathip Wongsurawat, Nutcha Pinjaroen, Pongserath Sirichindakul, Intawat Nookaew, Pisit Tangkijvanich
Software Mentions: 2
Published: over 3 years ago

10.1002/cam4.2146

Prognostic implications of a molecular classifier derived from whole‐exome sequencing in nasopharyngeal carcinoma
Cited by: 12
Author(s): Hai–Yun Wang, Fugen Li, Na Liu, Xiao‐Yun Liu, Xinhua Yang, Yun‐Miao Guo, Jin‐Xin Bei, Yi‐Xin Zeng, Jian Yong Shao
Software Mentions: 2
Published: over 5 years ago

10.1038/s41419-020-03370-4

Adaptive resistance to PI3Kα-selective inhibitor CYH33 is mediated by genomic and transcriptomic alterations in ESCC cells
Cited by: 10
Author(s): Yuxiang Wang, Xu Zhang, Qingyang Ma, Landian Hu, Xi Zhang, Yi Wang, Lan Xu, Chunhao Yang, Cun Tan, Xiangyin Kong, Jian Ding, Linghua Meng
Software Mentions: 2
Published: almost 4 years ago

10.3389/fgene.2020.632311

A Density Peak-Based Method to Detect Copy Number Variations From Next-Generation Sequencing Data
Cited by: 2
Author(s): Kai Xie, Yuan Tian, Xiguo Yuan
Software Mentions: 2
Published: almost 4 years ago

10.1186/s40478-020-01029-x

Proteogenomic analysis of melanoma brain metastases from distinct anatomical sites identifies pathways of metastatic progression
Cited by: 4
Author(s): E. Stewart Taylor, Stephanie D. Byrum, Jacob L. Edmondson, Christopher P. Wardell, Brittany G. Griffin, Sara C. Shalin, Murat Gökden, Issam Makhoul, Alan J. Tackett, Analiz Rodriguez
Software Mentions: 2
Published: about 4 years ago

10.3390/genes12050684

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region
Cited by: 8
Author(s): Dana Šafka Brožková, Anna Uhrová Mészárosová, Petra Laššuthová, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Ras̆ková, Filip Lhota, Daniela Gašperíková, Pavel Seeman
Software Mentions: 2
Published: over 3 years ago

10.3389/fgene.2020.00616

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients
Cited by: 5
Author(s): Bing Xiao, Xiantao Ye, Lili Wang, Yanjie Fan, Xuefan Gu, Xing Ji, Yu Sun, Yongguo Yu
Software Mentions: 2
Published: over 4 years ago

10.1186/s13059-021-02285-3

Comprehensive identification of somatic nucleotide variants in human brain tissue
Cited by: 23
Author(s): Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobón, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomàs Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Flora M. Vaccarino, John V. Moran, Alexander Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov
Software Mentions: 2
Published: over 3 years ago

10.3390/biology10070584

CIRCNV: Detection of CNVs Based on a Circular Profile of Read Depth from Sequencing Data
Cited by: 1
Author(s): Huijing Zhao, Qi Li, Yuan Tian, Yuehui Chen, Haque A.K. Alvi, Xiguo Yuan
Software Mentions: 2
Published: over 3 years ago

10.3390/cancers13112709

Prognostic Genetic Biomarkers Based on Oncogenic Signaling Pathways for Outcome Prediction in Patients with Oral Cavity Squamous Cell Carcinoma
Cited by: 9
Author(s): Wen‐Lang Fan, Lan-Yan Yang, Chia-Hsun Hsieh, Tsung‐Chieh Lin, Mei-Yeh Jade Lu, Chun‐Ta Liao
Software Mentions: 2
Published: over 3 years ago

10.1186/s13073-020-00727-4

Clinical and molecular characterization of virus-positive and virus-negative Merkel cell carcinoma
Cited by: 59
Author(s): Gabriel J. Starrett, Manisha Thakuria, Tianqi Chen, Christina Marcelus, Jingwei Cheng, Jason Nomburg, Aaron R. Thorner, Michael K. Slevin, Winslow Powers, Robert T. Burns, Caitlin E Perry, Adriano Piris, Frank C. Kuo, Guilherme Rabinowits, Anita Giobbie‐Hurder, Laura E. MacConaill, James A. DeCaprio
Software Mentions: 2
Published: over 4 years ago

10.18632/oncotarget.12238

Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia
Cited by: 10
Author(s): Adam J. de Smith, Juhi Ojha, Stephen Francis, Erica Sanders, Alyson Endicott, Helen M. Hansen, Иван Смирнов, Amanda Termuhlen, Kyle M. Walsh, Catherine Metayer, Joseph L. Wiemels
Software Mentions: 2
Published: about 8 years ago

10.1186/s13023-020-1311-2

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Cited by: 20
Author(s): Xiaoyu Yu, Yun Lin, Jingying Xu, Tuanjie Che, Lin Li, Tao Yang, Hao Wu
Software Mentions: 2
Published: almost 5 years ago

10.1186/s12915-020-00844-x

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression
Cited by: 14
Author(s): Soulafa Mamlouk, Tincy Simon, Laura Tomás, David C. Wedge, Alexander Arnold, Andrea Menne, David Horst, David Capper, Markus Morkel, David Posada, Christine Sers, Hendrik Bläker
Software Mentions: 2
Published: about 4 years ago

10.1186/s40478-020-01027-z

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor
Cited by: 29
Author(s): C.H. Lucas, Rohit Gupta, Pamela Doo, Julieann C. Lee, Cathryn R. Cadwell, Biswarathan Ramani, J Hofmann, Emily A. Sloan, Bette K. Kleinschmidt‐DeMasters, Han S. Lee, Matthew D. Wood, Marjorie R. Grafe, Donald E. Born, Hannes Vogel, Shahriar Salamat, Diane Puccetti, David Scharnhorst, David Samuel, Tabitha Cooney, Elaine Cham, Lee Way Jin, Ziad Khatib, Ossama M. Maher, Gabriel Chamyan, Carole Brathwaite, Serguei Bannykh, Sabine Mueller, Cassie Kline, Anu Banerjee, Alyssa Reddy, Jennie Taylor, Jennifer Clarke, Nancy Ann Oberheim Bush, Nicholas Butowski, Nalin Gupta, Kurtis I. Auguste, Peter Sun, Jarod L. Roland, Corey Raffel, Manish K. Aghi, Philip V. Theodosopoulos, Edward F. Chang, Shawn L. Hervey-Jumper, Joanna J. Phillips, Melike Pekmezci, Andrew W. Bollen, Tarık Tihan, Susan M. Chang, Mitchel S. Berger, Arie Perry, David A. Solomon
Software Mentions: 2
Published: about 4 years ago

10.1186/s13073-021-00895-x

Modeling clonal structure over narrow time frames via circulating tumor DNA in metastatic breast cancer
Cited by: 7
Author(s): Zachary Weber, Katharine A. Collier, David Tallman, Juliet Forman, Sachet A. Shukla, Sarah Asad, Justin Rhoades, Samuel S. Freeman, Heather A. Parsons, Nicole Williams, Romualdo Barroso‐Sousa, Elizabeth H. Stover, Haider Mahdi, Carrie Cibulskis, Niall J. Lennon, Gavin Ha, Viktor A. Adalsteinsson, Sara M. Tolaney, Daniel G. Stover
Software Mentions: 2
Published: over 3 years ago

10.18632/oncotarget.22413

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione
Cited by: 24
Author(s): Gerrit Kürschner, Qingzhou Zhang, Rosanna Clima, Yi Xiao, Jonas Busch, Ergin Kilic, Klaus Jung, Nikolaus Berndt, Sascha Bulik, Hermann‐Georg Holzhütter, Giuseppe Gasparre, Marcella Attimonelli, M. Madan Babu, David Meierhofer
Software Mentions: 2
Published: almost 7 years ago

10.1002/mgg3.513

Evaluation of copy number variant detection from panel-based next-generation sequencing data
Cited by: 34
Author(s): Ruen Yao, Tingting Yu, Yanrong Qing, Jian Wang, Yiping Shen
Software Mentions: 2
Published: almost 6 years ago

10.1002/mgg3.1418

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability
Cited by: 0
Author(s): Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans‐Hilger Ropers, Vera M. Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi
Software Mentions: 2
Published: over 4 years ago

10.1002/1878-0261.12817

Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population‐based testing program
Cited by: 12
Author(s): Melanie Care, Jeanna McCuaig, Blaise Clarke, Sylvie Grenier, Raymond H. Kim, Marjan Rouzbahman, Natalie Stickle, Marcus Q. Bernardini, Tracy L. Stockley
Software Mentions: 2
Published: about 4 years ago

10.1002/1878-0261.12891

Molecular profiling of long‐term responders to immune checkpoint inhibitors in advanced non‐small cell lung cancer
Cited by: 20
Author(s): Joan Frigola, Alejandro Navarro, Caterina Carbonell, Ana Callejo, Patricia Izquierdo Iranzo, S. Cedrés, Alex Martínez-Martí, Núria Pardo, Nadia Saoudi-Gonzalez, Débora Martínez, José Jimenez, Irene Sansano, Francesco Mancuso, Paolo Nuciforo, Luis M. Montuenga, Montse Sánchez‐Céspedes, Aleix Prat, Ana Vivancos, Enriqueta Felip, Ramon Amat
Software Mentions: 2
Published: almost 4 years ago

10.1002/mgg3.411

Whole‐exome sequencing for variant discovery in blepharospasm
Cited by: 16
Author(s): Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska‐Bar, Zbigniew K. Wszołek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux
Software Mentions: 2
Published: over 6 years ago

10.1101/mcs.a001495

FGFR2 amplification in colorectal adenocarcinoma
Cited by: 18
Author(s): Jamal Carter, Catherine E. Cottrell, Samantha N. McNulty, Katinka A. Vigh‐Conrad, Stephen Lamp, Jonathan W. Heusel, Eric J. Duncavage
Software Mentions: 2
Published: about 7 years ago

10.1186/s13039-019-0439-z

Abstracts of the 12th European Cytogenomics Conference 2019
Cited by: 3
Author(s): Bárbara Marques, Silvia Dubou Serafim, Sónia Pedro, Ana Rita Tarelho, Cristina Ferreira, Rui Gonçalves, Hildeberto Correia
Software Mentions: 2
Published: over 5 years ago

10.3390/cancers12123869

Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment
Cited by: 38
Author(s): Elena Campaner, Alessandro Zannini, Mariangela Santorsola, Deborah Bonazza, Cristina Bottin, Valeria Cancila, Claudio Tripodo, Marina Bortul, Fabrizio Zanconati, Stefan Schoeftner, Giannino Del Sal
Software Mentions: 2
Published: almost 4 years ago

10.1371/journal.pgen.1009231

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
Cited by: 56
Author(s): Anna Byrjalsen, Thomas V.O. Hansen, Ulrik Kristoffer Stoltze, Mana M. Mehrjouy, Nanna Moeller Barnkob, Lisa Lyngsie Hjalgrim, René Mathiasen, Charlotte Kvist Lautrup, Pernille A Gregersen, Henrik Hasle, Peder Skov Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian Otamendi Laspiur, Maria Rossing, Rasmus Lykke Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne Gerdes, Kjeld Schmiegelow, Karin Wadt
Software Mentions: 2
Published: almost 4 years ago

10.1038/s41379-020-0596-y

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants
Cited by: 17
Author(s): Bernt Popp, Ramona Erber, Cornelia Kraus, Georgia Vasileiou, Juliane Hoyer, Stefanie Burghaus, Arndt Hartmann, Matthias W. Beckmann, André Reis, Abbas Agaimy
Software Mentions: 2
Published: about 4 years ago

10.1136/jitc-2020-002223

Genomic profiling of advanced cervical cancer to predict response to programmed death-1 inhibitor combination therapy: a secondary analysis of the CLAP trial
Cited by: 21
Author(s): Xin Huang, Minke He, Hongyu Peng, Chongjie Tong, Zhimin Liu, Xiaolong Zhang, Yang Shao, Dongqin Zhu, Junli Zhang, Jiani C. Yin, Fan Yang, C. Y. Lan
Software Mentions: 2
Published: over 3 years ago

10.3389/fimmu.2020.594212

Stereotactic Body Radiotherapy Is Effective in Modifying the Tumor Genome and Tumor Immune Microenvironment in Non-Small Cell Lung Cancer or Lung Metastatic Carcinoma
Cited by: 10
Author(s): Pu Zhou, Diangang Chen, Bo Zhu, Wei Chen, Qiang Xie, Yali Wang, Qiu‐Lin Tan, Bin Yuan, Xuejiao Zuo, Changlin Huang, Haobo Zhu, Guanghui Li
Software Mentions: 2
Published: almost 4 years ago

10.1186/s12920-020-00733-w

A machine learning framework for genotyping the structural variations with copy number variant
Cited by: 1
Author(s): Zheng Tian, Xiaoyan Zhu, Xuanping Zhang, Zhongmeng Zhao, Xin Yi, Jiayin Wang, Hongle Li
Software Mentions: 2
Published: over 4 years ago

10.1371/journal.pone.0235071

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
Cited by: 11
Author(s): Lena Obeidová, Tomáš Seeman, Filip Fencl, Květa Bláhová, J. Hojný, Veronika Elišáková, Jana Reiterová, J Štekrová
Software Mentions: 2
Published: over 4 years ago

10.1155/2020/4259293

Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer
Cited by: 10
Author(s): Bing Xu, Guangyu Shan, Qixi Wu, Weiwei Li, Hongjiang Wang, Hui Li, Yaping Yang, Qi Long, Ping Zhao
Software Mentions: 1
Published: about 4 years ago

10.1186/s12887-019-1470-2

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
Cited by: 9
Author(s): Olga B. Kondakova, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Ekaterina Ivanovna Surkova, П. А. Шаталов, Ilinsky Valery Vladimirovich
Software Mentions: 1
Published: over 5 years ago

10.1186/s12887-020-02309-0

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
Cited by: 2
Author(s): Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xuejian Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei
Software Mentions: 1
Published: about 4 years ago

10.1186/s12881-018-0669-7

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Cited by: 8
Author(s): Anastasiya Aleksandrovna Kozina, Е. Г. Окунева, Н. В. Барышникова, A. Yu. Krasnenko, Kirill Tsukanov, Olesya I. Klimchuk, Olga B. Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, П. А. Шаталов, Valery Ilinsky
Software Mentions: 1
Published: about 6 years ago

Projects: pypi: CNVkit

Papers Mentioning CNVkit 161