Results 21 to 30 of about 1,206,425 (150)

OncoGen.AI: an integrated platform for automated genomic analysis and reporting in precision oncology [PDF]

npj Precision Oncology
The translation of complex cancer genomics into clinically actionable insights is a critical bottleneck in precision oncology. To automate the entire workflow, we present OncoGen.AI, an end-to-end, containerized platform that automates the process from ...
Raidhani Shome, Suvendu Kumar, Sanjay Kumar Mohanty, Dhwani Dholakia, Arushi Sharma, Saveena Solanki, Sakshi Sharma, Sonam Chauhan, Shiva Satija, Himanshi Diwan, Manoj Kumar Panigrahi, Juhi Tayal, Anurag Mehta, Gaurav Ahuja   +13 more
doaj   +2 more sources

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology [PDF]

Human Genomics, 2017
Background Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure.
Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela, Miguel Mitne-Neto   +8 more
doaj   +2 more sources

Choosing a benchtop sequencing machine to characterise Helicobacter pylori genomes. [PDF]

PLoS ONE, 2013
The fully annotated genome sequence of the European strain, 26695 was first published in 1997 and, in 1999, it was directly compared to the USA isolate J99, promoting two standard laboratory isolates for Helicobacter pylori (H. pylori) research. With the
Timothy T Perkins, Chin Yen Tay, Fanny Thirriot, Barry Marshall   +3 more
doaj   +1 more source

Raw Ion Torrent reads in FASTQ format

, 2014
Raw Ion Torrent reads in FASTQ ...
Wielstra, Ben, Jan W. Arntzen (132377), Wiesław Babik (562635), Ben Wielstra (132374), Babik, Wiesław, Arntzen, Jan W.   +5 more
core   +2 more sources

TCR Convergence in Individuals Treated With Immune Checkpoint Inhibition for Cancer

Frontiers in Immunology, 2020
Tumor antigen-driven selection may expand T cells having T cell receptors (TCRs) of shared antigen specificity but different amino acid or nucleotide sequence in a process known as TCR convergence. Substitution sequencing errors introduced by TCRβ (TCRB)
Timothy John Looney, Denise Topacio-Hall, Geoffrey Lowman, Jeffrey Conroy, Jeffrey Conroy, Carl Morrison, Carl Morrison, David Oh, Lawrence Fong, Li Zhang   +9 more
doaj   +1 more source

Clinical Genotyping of Non–Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes

Neoplasia: An International Journal for Oncology Research, 2016
Detection of somatic mutations in non–small cell lung cancers (NSCLCs), especially adenocarcinomas, is important for directing patient care when targeted therapy is available.
Laura J. Tafe, Kirsten J. Pierce, Jason D. Peterson, Francine de Abreu, Vincent A. Memoli, Candice C. Black, Jason R. Pettus, Jonathan D. Marotti, Edward J. Gutmann, Xiaoying Liu, Keisuke Shirai, Konstantin H. Dragnev, Christopher I. Amos, Gregory J. Tsongalis   +13 more
doaj   +1 more source

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer [PDF]

PeerJ, 2019
Background Conventional methods used to identify BRCA1 and BRCA2 germline mutations in hereditary cancers, such as Sanger sequencing/multiplex ligation-dependent probe amplification (MLPA), are time-consuming and expensive, due to the large size of the ...
Arianna Nicolussi, Francesca Belardinilli, Yasaman Mahdavian, Valeria Colicchia, Sonia D’Inzeo, Marialaura Petroni, Massimo Zani, Sergio Ferraro, Virginia Valentini, Laura Ottini, Giuseppe Giannini, Carlo Capalbo, Anna Coppa   +12 more
doaj   +2 more sources

Ion Torrent output

, 2017
Ion Torrent ...
Burke, Terence, J. W. Arntzen (3271848), Wielstra, Ben, Arntzen, J. W., Roger Butlin (128964), Ben Wielstra (132374), Terence Burke (5013401), Butlin, Roger   +7 more
core   +1 more source

ASPICov: An automated pipeline for identification of SARS-Cov2 nucleotidic variants.

PLoS ONE, 2022
ASPICov was developed to provide a rapid, reliable and complete analysis of NGS SARS-Cov2 samples to the biologist. This broad application tool allows to process samples from either capture or amplicon strategy and Illumina or Ion Torrent technology.
Valentin Tilloy, Pierre Cuzin, Laura Leroi, Emilie Guérin, Patrick Durand, Sophie Alain   +5 more
doaj   +2 more sources

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Frontiers in Immunology, 2019
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably.
Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Federica Barzaghi, Federica Barzaghi, Matteo Zoccolillo, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Maria Pia Cicalese, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Francesca Ferrua, Francesca Ferrua, Clementina Canessa, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Viviana Moschese, Loredana Chini, Loredana Chini, Anna Villa, Anna Villa, Chiara Azzari, Chiara Azzari, Andrea Finocchi, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Alessandro Aiuti, Alessandro Aiuti, Caterina Cancrini, Caterina Cancrini, Gigliola Di Matteo, Gigliola Di Matteo   +57 more
doaj   +1 more source