Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Projects: pypi: CNVkit
https://packages.ecosyste.ms/registries/pypi.org/packages/CNVkit
Copy number variation toolkit for high-throughput sequencing.
49 versions
Latest release: over 1 year ago
3,670 downloads last month
Papers Mentioning CNVkit 161
10.7150/jca.60447
CNV Analysis of the Correlation between Preoperative Lymph Node Metastasis and Prognosis of Early Tongue CancerCited by: 1
Author(s): Xi Yang, Fang Lü, Chenping Zhang
Software Mentions: 1
Published: almost 4 years ago
10.3390/jcm9020370
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate GenesCited by: 12
Author(s): Maria Franaszczyk, Grażyna Truszkowska, Przemysław Chmielewski, Małgorzata Rydzanicz, Joanna Kosińska, Tomasz Rywik, Anna Biernacka, Mateusz Śpiewak, Grażyna Kostrzewa, Małgorzata Stępień‐Wojno, Piotr Stawiński, Maria Bilińska, Paweł Krajewski, Tomasz Zieliński, Anna Lutyńska, Zofia T. Bilińska, Rafał Płoski
Software Mentions: 1
Published: almost 5 years ago
10.1186/s12864-019-5877-9
Whole genome sequencing of Asia II 1 species of whitefly reveals that genes involved in virus transmission and insecticide resistance have genetic variances between Asia II 1 and MEAM1 speciesCited by: 23
Author(s): Sonia Hussain, Muhammad Farooq, Hassan Jamil Malik, Imran Amin, Brian E. Scheffler, Jodi A. Scheffler, Shu‐Sheng Liu, Shahid Mansoor
Software Mentions: 1
Published: over 5 years ago
10.1038/s41598-018-29471-x
Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial DiseaseCited by: 5
Author(s): Julie V. Philley, Kate L. Hertweck, Anbarasu Kannan, Barbara A. Brown‐Elliott, Richard J. Wallace, Anna Kurdowska, Harrison Ndetan, Karan P. Singh, Edmund J. Miller, David E. Griffith, Santanu Dasgupta
Software Mentions: 1
Published: over 6 years ago
10.1186/s12895-019-0084-6
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case reportCited by: 4
Author(s): Е. Г. Окунева, Anastasiya Aleksandrovna Kozina, Н. В. Барышникова, A. Yu. Krasnenko, Kirill Tsukanov, Olesya I. Klimchuk, Ekaterina Ivanovna Surkova, Valery Ilinsky
Software Mentions: 1
Published: almost 6 years ago
10.1038/s41598-019-38760-y
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patientsCited by: 7
Author(s): Luke O’Gorman, Angela J. Cree, Daniel Ward, Helen Griffiths, Roshan Sood, Alastair K Denniston, Jay E. Self, Sarah Ennis, Andrew Lotery, Jane Gibson
Software Mentions: 1
Published: over 5 years ago
10.1038/s41598-019-40364-5
Detection of chromosome structural variation by targeted next-generation sequencing and a deep learning applicationCited by: 18
Author(s): Hosub Park, Sung-Min Chun, Jooyong Shim, Ji-Hye Oh, Eun Jeong Cho, Hyeon-Shik Hwang, Jiyoung Lee, Deokhoon Kim, Se Jin Jang, Soo Jeong Nam, Chong-Sun Hwang, Insuk Sohn, Chang‐Keun Sung
Software Mentions: 1
Published: over 5 years ago
10.1186/s12872-021-01927-5
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patientsCited by: 15
Author(s): Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas‐Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo
Software Mentions: 1
Published: over 3 years ago
10.1038/s41598-019-52000-3
Development and validation of a targeted gene sequencing panel for application to disparate cancersCited by: 16
Author(s): Mark J. McCabe, Marie Gauthier, Chia Ling Chan, Tanya Thompson, Sunita M. C. De Sousa, Clare Puttick, John P. Grady, Velimir Gayevskiy, Tao Jiang, Kevin Ying, Arcadi Cipponi, Niantao Deng, Alexander Swarbrick, Melissa L. Thomas, Reginald V. Lord, Amber Johns, Maija Kohonen–Corish, Sandra A. O’Toole, Jonathan Clark, Simon A. Mueller, Ruta Gupta, Ann McCormack, Marcel E. Dinger, Mark J. Cowley, _ kConFab
Software Mentions: 1
Published: almost 5 years ago
10.1186/s12885-021-07829-1
Genomic profiling of Chinese patients with urothelial carcinomaCited by: 6
Author(s): Bo Yang, Xu Zhao, Chong Wan, Xin Ma, Shaoxi Niu, Aitao Guo, Jieli Wang, Jinliang Wang, David Sun, Shunchang Jiao
Software Mentions: 1
Published: over 3 years ago
10.1038/s41598-020-62364-6
Challenges and opportunities for strain verification by whole-genome sequencingCited by: 5
Author(s): Jenna E. Gallegos, Sergei Häyrynen, Neil R. Adames, Jean Peccoud
Software Mentions: 1
Published: over 4 years ago
10.1186/s12885-020-06937-8
Acquired resistance to DZNep-mediated apoptosis is associated with copy number gains of AHCY in a B-cell lymphoma modelCited by: 1
Author(s): Chidimma Agatha Akpa, Karsten Kleo, Elisabeth Oker, Nancy Tomaszewski, Clemens Messerschmidt, Cristina López, Rabea Wagener, Kathrin Oehl-Huber, Katja Dettmer, Anne Schoeler, Dido Lenze, Peter J. Oefner, Dieter Beule, Reiner Siebert, David Capper, Lora Dimitrova, Michael Hummel
Software Mentions: 1
Published: over 4 years ago
10.1038/s41598-021-93129-4
The first insight into the genetic structure of the population of modern SerbiaCited by: 1
Author(s): Tamara Drljača, Branka Zukić, Vladimir Kovačević, Branislava Gemović, Kristel Klaassen-Ljubicic, Vladimir Perović, Mladen Lazarevic, Sonja Pavlović, Nevena Veljković
Software Mentions: 1
Published: over 3 years ago
10.1186/s12885-019-5633-1
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disabilityCited by: 1
Author(s): Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael S. Wiesener, Christiane Zweier
Software Mentions: 1
Published: over 5 years ago
10.1038/s41598-021-92943-0
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomasCited by: 2
Author(s): Eve Kazarian, Asher Marks, Jin Cui, Armine Darbinyan, Elizabeth Tong, Sabine Mueller, Soonmee Cha, Mariam Aboian
Software Mentions: 1
Published: over 3 years ago
10.1186/s12885-019-5780-4
Molecular genetic characterization reveals linear tumor evolution in a pulmonary sarcomatoid carcinomas patient with a novel PHF20-NTRK1 fusion: a case reportCited by: 6
Author(s): Jianjun Ge, Bin Yao, Jia Huang, Xue Wu, Hua Bao, Qiuxiang Ou, Yang Shao, Jun Chen
Software Mentions: 1
Published: over 5 years ago
10.18632/oncotarget.16029
Predicting clinical benefit from everolimus in patients with advanced solid tumors, the CPCT-03 studyCited by: 9
Author(s): Fleur Weeber, Geert A. Cirkel, Marlous Hoogstraat, Sander Bins, Christa G.M. Gadellaa-van Hooijdonk, Salo Ooft, Erik van Werkhoven, Stefan M. Willems, Marijn van Stralen, Wouter B. Veldhuis, Nicolle Besselink, Hugo M. Horlings, Neeltje Steeghs, Maja J. De Jonge, Marlies H.G. Langenberg, Lodewyk Wessels, Edwin Cuppen, Jan H.M. Schellens, Stefan Sleijfer, Martijn P. Lolkema, Emile E. Voest
Software Mentions: 1
Published: over 7 years ago
10.7717/peerj.8278
Genetic characteristics of non-familial epilepsyCited by: 16
Author(s): Kyung Wook Kang, Wonkuk Kim, Yong Won Cho, Sang Kun Lee, Ki Young Jung, Won‐Chul Shin, Dong Wook Kim, Won Joo Kim, Hyang Woon Lee, Woojun Kim, Keuntae Kim, So Hyun Lee, Sunga Choi, Myeong Kyu Kim
Software Mentions: 1
Published: almost 5 years ago
10.1371/journal.pgen.1007395
Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organsCited by: 31
Author(s): August Yue Huang, Xiaoxu Yang, Sheng Wang, Xianing Zheng, Qixi Wu, Adam Yongxin Ye, Liping Wei
Software Mentions: 1
Published: over 6 years ago
10.1371/journal.pone.0255933
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosisCited by: 5
Author(s): Kimberly Gall, Emanuela Izzo, Eija H. Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
Software Mentions: 1
Published: about 3 years ago
10.1371/journal.pone.0246322
Prognostic value of integrated cytogenetic, somatic variation, and copy number variation analyses in Korean patients with newly diagnosed multiple myelomaCited by: 5
Author(s): Nuri Lee, Sung-Min Kim, Young‐Eun Lee, Dajeong Jeong, Jeong‐Ho Yun, Seungwon Ryu, Sung Soo Yoon, Yong-Oon Ahn, Sang Mee Hwang, Dong Hoon Lee
Software Mentions: 1
Published: almost 4 years ago
10.1371/journal.pone.0195761
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromesCited by: 22
Author(s): Jana Soukupová, Petra Zemánková, Klára Lhotová, Markéta Janatová, Marianna Borecká, Lenka Stolařová, Filip Lhota, Lenka Foretová, Eva Macháčková, Viktor Stránecký, Spiros Tavandzis, Petra Kleiblová, Michal Vočka, Hana Hartmannová, Kateřina Hodaňová, Stanislav Kmoch, Zdeněk Kleibl
Software Mentions: 1
Published: over 6 years ago
10.3390/genes11101145
Differential Regulation of Telomeric Complex by BCR-ABL1 Kinase in Human Cellular Models of Chronic Myeloid Leukemia—From Single Cell Analysis to Next-Generation SequencingCited by: 9
Author(s): Anna Deręgowska, Monika Pępek, Katarzyna Pruszczyk, Marcin M. Machnicki, Maciej Wnuk, Tomasz Stokłosa
Software Mentions: 1
Published: about 4 years ago
10.3390/cancers12082065
Distinct Molecular Landscape of Epstein–Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic SequencingCited by: 22
Author(s): Shuk‐Ling Chau, Joanna H. Tong, Chit Chow, Johnny S. H. Kwan, Raymond Wai Ming Lung, Lau‐Ying Chung, Edith K.Y. Tin, Shela Shu‐Yan Wong, Alvin Ho‐Kwan Cheung, Rainbow Wing-Hung Lau, Calvin S.H. Ng, Tony Mok, Kwok‐Wai Lo, Ka‐Fai To
Software Mentions: 1
Published: over 4 years ago
10.1097/MD.0000000000019291
Proceedings of the 23rd Annual Meeting of the Portuguese Society of Human GeneticsCited by: 3
Author(s):
Software Mentions: 1
Published: almost 5 years ago
10.1038/s41375-018-0206-x
Subclonal evolution in disease progression from MGUS/SMM to multiple myeloma is characterised by clonal stabilityCited by: 86
Author(s): Ankit K. Dutta, J. Lynn Fink, John P. Grady, Gareth J. Morgan, Charles G. Mullighan, Luen Bik To, Duncan R. Hewett, Andrew C.W. Zannettino
Software Mentions: 1
Published: over 6 years ago
10.3390/cancers12123736
Circulating Tumour DNA Sequencing Identifies a Genetic Resistance-Gap in Colorectal Cancers with Acquired Resistance to EGFR-Antibodies and ChemotherapyCited by: 3
Author(s): Franciele Hinterholz Knebel, Louise J. Barber, Alice Newey, Dimitrios Kleftogiannis, Andrew Woolston, Beatrice Griffiths, Kerry Fenwick, Fabiana Bettoni, Maurício Fernando Silva Almeida Ribeiro, Leonardo da Fonseca, Frederico Costa, Fernanda Capareli, Paulo M. Hoff, Jorge Sabbaga, Anamaria A. Camargo, Marco Gerlinger
Software Mentions: 1
Published: almost 4 years ago
10.1186/s12967-021-02832-3
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathyCited by: 6
Author(s): Mingmin Li, Shuang Xia, Lan Xu, Hong Kee Tan, Jian Yang, Zejia Wu, Xupeng He, Liwen Liu
Software Mentions: 1
Published: over 3 years ago
10.1002/cam4.3874
Real‐world utility of next‐generation sequencing for targeted gene analysis and its application to treatment in lung adenocarcinomaCited by: 9
Author(s): Jwa Hoon Kim, Shinkyo Yoon, Dong Hoon Lee, Se Jin Jang, Sung-Min Chun, Sang‐We Kim
Software Mentions: 1
Published: over 3 years ago
10.1186/s40478-018-0551-z
The genetic landscape of gangliogliomaCited by: 116
Author(s): Melike Pekmezci, Javier Villanueva-Meyer, Benjamin Goode, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Gabriel Chamyan, Ossama M. Maher, Ziad Khatib, Bette K. Kleinschmidt‐DeMasters, David Samuel, Sabine Mueller, Anuradha Banerjee, Jennifer Clarke, Tabitha Cooney, Joseph Torkildson, Nalin Gupta, Philip V. Theodosopoulos, Edward F. Chang, Mitchel S. Berger, Andrew W. Bollen, Arie Perry, Tarık Tıhan, David A. Solomon
Software Mentions: 1
Published: over 6 years ago
10.3390/cancers10040096
Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from GreeceCited by: 9
Author(s): Georgia Kontogianni, Georgia Piroti, Ilias Maglogiannis, Aristotelis Chatziioannou, Olga Papadodima
Software Mentions: 1
Published: over 6 years ago
10.1002/cam4.2869
Detection of plasma<i>EGFR</i>mutations for personalized treatment of lung cancer patients without pathologic diagnosisCited by: 8
Author(s): Qinfang Deng, Qiyu Fang, Hui Sun, Aditi Singh, Mariam P. Alexander, Shenduo Li, Haiying Cheng, Shunhua Zhou
Software Mentions: 1
Published: almost 5 years ago
10.3390/cancers12102935
Comprehensive Exome Analysis of Immunocompetent Metastatic Head and Neck Cancer Models Reveals Patient Relevant LandscapesCited by: 4
Author(s): Hui Li, Hoi Lam Ngan, Yuchen Liu, Helen Hoi Yin Chan, P.W.F. Poon, Chun Yeung, Yibing Peng, Wai Yip Lam, Benjamin Xiaoyi Li, Yukai He, Vivian Wai Yan Lui
Software Mentions: 1
Published: about 4 years ago
10.3390/cancers13020340
T-Cell Lymphoma Clonality by Copy Number Variation Analysis of T-Cell Receptor GenesCited by: 3
Author(s): Ming Liang Oon, Jing Quan Lim, Bernett Lee, Sai Mun Leong, Gwyneth Shook-Ting Soon, Zi Wei Wong, Evelyn Huizi Lim, Zhenhua Li, Allen Eng Juh Yeoh, Shangying Chen, Kenneth Ban, Tae-Hoon Chung, Soo‐Yong Tan, Shih‐Sung Chuang, Seiichi Kato, Shigeo Nakamura, Emiko Takahashi, Yong-Howe Ho, Joseph D. Khoury, Rex Au-Yeung, Chee-Leong Cheng, Soon-Thye Lim, Wee‐Joo Chng, Claudio Tripodo, Olaf Rötzschke, Choon Kiat Ong, Siok-Bian Ng
Software Mentions: 1
Published: almost 4 years ago
10.1186/s13058-019-1102-7
Targeted mutation detection in breast cancer using MammaSeq™Cited by: 28
Author(s): Nicholas G. Smith, Rekha Gyanchandani, Osama Shiraz Shah, Grzegorz T. Gurda, Peter C. Lucas, Ryan J. Hartmaier, Adam Brufsky, Shannon Puhalla, Amir Bahreini, Karthik Kota, Abigail I. Wald, Yuri E. Nikiforov, Marina N. Nikiforova, Steffi Oesterreich, Adrian V. Lee
Software Mentions: 1
Published: over 5 years ago
10.1186/s13058-019-1143-y
Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 yearsCited by: 16
Author(s): Christos Petridis, Iteeka Arora, Vandna Shah, Anargyros Megalios, Charlotte Moss, Anca Mera, Angela Clifford, Cheryl Gillett, Sarah Pinder, Ian Tomlinson, Rebecca Roylance, Michael A. Simpson, Elinor J. Sawyer
Software Mentions: 1
Published: over 5 years ago
10.1038/s41419-020-2492-2
Decreased ZNF750 promotes angiogenesis in a paracrine manner via activating DANCR/miR-4707-3p/FOXC2 axis in esophageal squamous cell carcinomaCited by: 26
Author(s): Yanghui Bi, Shixing Guo, Xiaoqin Xu, Ping Kong, Heyang Cui, Tao Yan, Yue Ma, Yikun Cheng, Yunqing Chen, Xue Li, Ling Zhang, Cheng Chen, Enwei Xu, Yu Qian, Jian Yang, Bin Song, Hongyi Li, Fang Wang, Xiaoling Hu, Xiangchen Liu, Xia Niu, Yuanfang Zhai, Jing Liu, Yaoping Li, Xiaolong Cheng, Yongping Cui
Software Mentions: 1
Published: over 4 years ago
10.1038/s41416-019-0713-1
Genomic profiling of multiple breast cancer reveals inter-lesional heterogeneityCited by: 6
Author(s): Soomin Ahn, Hyun Jeong Kim, Eunyoung Kang, Eun Kyu Kim, Se Hyun Kim, Jee Hyun Kim, In Ah Kim, So Yeon Park
Software Mentions: 1
Published: almost 5 years ago
10.1038/s42003-021-02607-y
Low-viscosity matrix suspension culture enables scalable analysis of patient-derived organoids and tumoroids from the large intestineCited by: 12
Author(s): Yumiko Hirokawa, Jordan Clarke, Michelle Palmieri, Tao Tan, Dmitri Mouradov, Shan Li, Lin Cong, Fuqiang Li, Huijuan Luo, Kui Wu, Maree C. Faux, Chin Wee Tan, Margaret Lee, Grace Gard, Peter Gibbs, Antony W. Burgess, Oliver M. Sieber
Software Mentions: 1
Published: about 3 years ago
10.1093/database/baz013
A scalable, aggregated genotypic–phenotypic database for human disease variationCited by: 6
Author(s): Ryan Barrett, Cynthia L. Neben, Anjali D. Zimmer, Gilad Mishne, Wendy McKennon, Alicia Y. Zhou, Jeremy Ginsberg
Software Mentions: 1
Published: almost 6 years ago
10.3390/diagnostics11040708
Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGHCited by: 4
Author(s): Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes
Software Mentions: 1
Published: over 3 years ago
10.3389/fgene.2020.600787
Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus ArteriosusCited by: 3
Author(s): Bin Chen, Aiping Hou, Lin Zhao, Ying Liu, Xin Shi, Bowen Du, Yu Yu, Pei Zhao, Ying Gao
Software Mentions: 1
Published: almost 4 years ago
10.3389/fgene.2021.608742
Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese PatientsCited by: 5
Author(s): Chunrong Zhu, Liangjun Zhu, Yanhong Gu, Ping Liu, Xiaoling Tong, Guozhong Wang, Wen‐Yuan Zhu, Wenxiang Shen, Hua Bao, Xiongfeng Ma, Rong Yu, Xue Wu, Dongqin Zhu, Yongqian Shu, Jifeng Feng
Software Mentions: 1
Published: about 3 years ago
10.7554/eLife.47327
FAK activity sustains intrinsic and acquired ovarian cancer resistance to platinum chemotherapyCited by: 69
Author(s): Carlos J. Díaz Osterman, Duygu Ozmadenci, Elizabeth G. Kleinschmidt, Keith Taylor, A. Barrie, Shulin Jiang, L.M. Bean, Florian J. Sulzmaier, Christine Jean, Isabelle Tancioni, Kristen Anderson, Sean Uryu, Edward A. Cordasco, Jian Li, Xiao Lei Chen, Guo Fu, Marjaana Ojalill, Pekka Rappu, Jyrki Heino, Adam Mark, Guiyin Xu, Kathleen M. Fisch, Vihren N. Kolev, David T. Weaver, Jonathan A. Pachter, Balázs Győrffy, Michael McHale, Denise C. Connolly, Alfredo A. Molinolo, Dwayne G. Stupack, David D. Schlaepfer
Software Mentions: 1
Published: about 5 years ago
10.3389/fgene.2021.699510
A Cluster-Based Approach for the Discovery of Copy Number Variations From Next-Generation Sequencing DataCited by: 0
Author(s): Guojun Liu, Junying Zhang
Software Mentions: 1
Published: over 3 years ago
10.3389/fgene.2019.00015
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal DefectCited by: 12
Author(s): Huilin Xie, Nanchao Hong, Erge Zhang, Fen Li, Sun Kim, Yanshan Yu
Software Mentions: 1
Published: almost 6 years ago
10.3389/fgene.2020.00897
Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis ImperfectaCited by: 2
Author(s): Yen-An Tang, Lin-Yen Wang, Chiao-May Chang, I-Wen Lee, Wen‐Hui Tsai, Hui‐Lung Sun
Software Mentions: 1
Published: about 4 years ago
10.3389/fgene.2021.646929
Mutation and Copy Number Alterations Analysis of KIF23 in GliomaCited by: 5
Author(s): Zheng Zhao, Zheng Wang, Zhaoshi Bao, Weizhen Gao, Yuan-Da Zhang, Cijie Ruan, Tao Lv, Yong Wang, Lihua Sun
Software Mentions: 1
Published: over 3 years ago
10.3389/fgene.2020.00130
Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of ChinaCited by: 3
Author(s): Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Yang, Yuanbai Wang, Jing Wu
Software Mentions: 1
Published: over 4 years ago
10.3389/fneur.2020.00544
Next-Generation Sequencing Analysis of ctDNA for the Detection of Glioma and Metastatic Brain Tumors in AdultsCited by: 10
Author(s): Jianfeng Liang, Wanni Zhao, Changyu Lu, Danni Liu, Ping Li, Xun Ye, Yuanli Zhao, Jing Zhang, Dong Yang
Software Mentions: 1
Published: about 4 years ago
10.1155/2020/6615575
Genomic Mutations of Primary and Metastatic Lung Adenocarcinoma in Chinese PatientsCited by: 8
Author(s): Xinyu Chen, Qing Bu, Xuexin Yan, Ye Li, Qian Yu, Haiping Zhao, Liang Zhao, Yanwu Zeng, Leilei Lu, Dong Li, Jie Ma
Software Mentions: 1
Published: almost 4 years ago
10.3389/fonc.2020.01706
ctDNA Concentration, MIKI67 Mutations and Hyper-Progressive Disease Related Gene Mutations Are Prognostic Markers for Camrelizumab and Apatinib Combined Multiline Treatment in Advanced NSCLCCited by: 15
Author(s): Yao Chen, Xiaobin Li, Guifeng Liu, Shifu Chen, Man Xu, Lele Song, Yina Wang
Software Mentions: 1
Published: about 4 years ago
10.3389/fonc.2021.672386
Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical CancerCited by: 3
Author(s): Chaohui Bao, Na An, Hong Xie, Ling Xu, Boping Zhou, Jun Luo, Wanqiu Huang, Jian Huang
Software Mentions: 1
Published: over 3 years ago
10.3389/fonc.2021.646338
Genomic Landscape of Chinese Clear Cell Renal Cell Carcinoma Patients With Venous Tumor Thrombus Identifies Chromosome 9 and 14 Deletions and Related Immunosuppressive MicroenvironmentCited by: 7
Author(s): Shaoxi Niu, Kan Liu, Yong Xu, Cheng Peng, Yao Yu, Qingbo Huang, Shengpan Wu, Bo Cui, Yan Huang, Xin Ma, Xu Zhang, Qianqian Wang
Software Mentions: 1
Published: over 3 years ago
10.3389/fonc.2020.558760
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast CancerCited by: 8
Author(s): Hyun Ee Yim, Jang-Hee Kim, Mi Sun Ahn, Yongsik Jung, Jin Roh, So Hyun Park, Taegyu Kim, Jin-Hyuk Choi, Seok Yun Kang
Software Mentions: 1
Published: over 3 years ago
10.3389/fonc.2019.00676
Spatial Distance Correlates With Genetic Distance in Diffuse GliomaCited by: 7
Author(s): Evan Gates, Jie Yang, Kazutaka Fukumura, Jenshan Lin, Jeffrey S. Weinberg, Sujit S. Prabhu, Lihong Long, David Fuentes, Erik P. Sulman, Jason T. Huse, Dawid Schellingerhout
Software Mentions: 1
Published: over 5 years ago
10.3389/fped.2021.635703
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic EncephalopathiesCited by: 8
Author(s): Dan Sun, Yan Liu, Wei Cai, Jiehui Ma, Kun Ni, Ming Chen, Cheng Wang, Liu Yong-chu, Yuanyuan Zhu, Zhisheng Liu, Feng Zhu
Software Mentions: 1
Published: over 3 years ago
10.3390/biomedicines8100404
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 GenesCited by: 8
Author(s): Lenka Stolařová, Sandra Jelínková, Radka Storchová, Eva Macháčková, Petra Zemánková, Michal Vočka, Ondřej Kodet, J Král, Marta Černá, Z Volková, Markéta Janatová, Jana Soukupová, Viktor Stránecký, Pavel Dundr, Lenka Foretová, Libor Macůrek, Petra Kleiblová, Zdeněk Kleibl
Software Mentions: 1
Published: about 4 years ago
10.1186/s13059-020-02222-w
Integrated genomic and transcriptomic analysis reveals unique characteristics of hepatic metastases and pro-metastatic role of complement C1q in pancreatic ductal adenocarcinomaCited by: 22
Author(s): Jianyu Yang, Ping Lin, Minwei Yang, Wei Liu, Xueliang Fu, Dejun Liu, Ling‐Ye Tao, Yan‐Miao Huo, Junfeng Zhang, Rong Hua, Zhigang Zhang, Yixue Li, Liwei Wang, Jing Xue, Hong Li, Yongwei Sun
Software Mentions: 1
Published: almost 4 years ago
10.1093/bioinformatics/btx284
Reliability of algorithmic somatic copy number alteration detection from targeted capture dataCited by: 12
Author(s): Nora Rieber, Regina Bohnert, Ulrike Ziehm, Gunther Jansen
Software Mentions: 1
Published: over 7 years ago
10.1186/s13073-021-00912-z
Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluidsCited by: 14
Author(s): Wei Gu, Eric Talevich, Elaine Hsu, Zhongxia Qi, Anatoly Urisman, Scot Federman, Allan Gopez, Shaun Arevalo, Marc Gottschall, Linda M. Liao, Jack K. Tung, Lei Chen, Harumi Lim, Chandler Ho, Maya Kasowski, Jean Oak, Brittany J. Holmes, Iwei Yeh, Jingwei Yu, Linlin Wang, Steve Miller, Joseph L. DeRisi, Sonam Prakash, Jeff Simko, Charles Y. Chiu
Software Mentions: 1
Published: over 3 years ago