المؤلفون: Barcelona Cabeza, Rosa

المساهمون: University/Department: Universitat Politècnica de Catalunya. Facultat de Matemàtiques i Estadística

Thesis Advisors: Cigliano, Riccardo Aiese, Sanseverino, Walter

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Next generation sequencing (NGS), Genomics, Bioinformatics, Indels, Genómica, Bioinformática, Àrees temàtiques de la UPC::Enginyeria biomèdica

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/672757

المؤلفون: Flanagan, Kevin, Earls, Jon, Hiken, Jeffrey, Wellinghoff, Rachel, Ponder, Michelle, McLeod, Howard, Westra, William, Vavinskaya, Vera, Sutton, Leisa, Deichaite, Ida, Macdonald, Orlan, Welaya, Karim, Wade, James, Azzi, Georges, Pippas, Andrew, Slim, Jennifer, Bank, Bruce, Sui, Xingwei, Kossman, Steven, Shenkenberg, Todd, Alexander, Warren, Price, Katharine, Ley, Jessica, Messina, David, Glasscock, Jarret, Colevas, A, Cohen, Ezra, Adkins, Douglas, Duncavage, Eric

المصدر: Journal for ImmunoTherapy of Cancer. 12(11)

مصطلحات موضوعية: biomarker, head and neck cancer, immune checkpoint inhibitor, next generation sequencing (NGS), tumor mutation burden (TMB), Humans, Squamous Cell Carcinoma of Head and Neck, Male, Female, Head and Neck Neoplasms, Middle Aged, Immune Checkpoint Inhibitors, Aged, Programmed Cell Death 1 Receptor, Neoplasm Recurrence, Local, Neoplasm Metastasis, Biomarkers, Tumor, Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3nx7z3ph
https://escholarship.org/content/qt3nx7z3ph/qt3nx7z3ph.pdf

المؤلفون: Yolanda Peña-López, Naureen G. Tareen, Bo Zhang, Indu Raman, Carlos A. Arana, Chengsong Zhu, Yang Liu, Pratibha Selvakumar, Nicolai S. C. van Oers, Simrat Morris, Lora V. Hooper, Lawson A. B. Copley, Prithvi Raj

المصدر: Pediatric Rheumatology Online Journal, Vol 23, Iss 1, Pp 1-12 (2025)

مصطلحات موضوعية: Autoimmune, Cytokine Infection, 16S rRNA bacterial sequencing, Metagenomics, Next-generation sequencing (NGS), Pediatric, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/a67a1f02827e4dfbb958a678c169865d

المؤلفون: Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

المصدر: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

مصطلحات موضوعية: Newborn screening (NBS), Inherited metabolic disorders (IMDs), Whole exome sequencing (WES), Next-generation sequencing (NGS), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/be2db783765c47a39f414a19fae526fc

المؤلفون: Ismena Gałęcka, Andrzej Rychlik, Jarosław Całka

المصدر: Scientific Reports, Vol 15, Iss 1, Pp 1-14 (2025)

مصطلحات موضوعية: Metagenomics, Microplastic, Next-generation sequencing (NGS), Pig, Polyethylene terephthalate (PET), 16s rRNA, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/73983e11640f47cca1c2ed04343dd100

المؤلفون: Sheng-Kai Lai, Allen Chilun Luo, I-Hsuan Chiu, Hui-Wen Chuang, Ting-Hsuan Chou, Tsung-Kai Hung, Jacob Shujui Hsu, Chien-Yu Chen, Wei-Shiung Yang, Ya-Chien Yang, Pei-Lung Chen

المصدر: Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 1562-1571 (2024)

مصطلحات موضوعية: Human leukocyte antigen (HLA), Next-generation sequencing (NGS), Probe capture, Targeted sequencing, Human Pangenome Reference Consortium (HPRC), IPD-IMGT/HLA, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037024000837; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/08955c6a50a74592a2f382097a0b670e

المؤلفون: Magdy Elbordiny, Reham AboElwafa, Abeer Elhadidi, Ashraf Elghandour, Salma Elmasry

المصدر: Alexandria Journal of Medicine, Vol 60, Iss 1, Pp 282-289 (2024)

مصطلحات موضوعية: Acute myeloid leukemia (AML), Next-Generation Sequencing (NGS), RUNX1-RUNX1T1 fusion, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-5068; https://doaj.org/toc/2090-5076

URL الوصول: https://doaj.org/article/a8afefcf9d974e1a9ddc5d5ce50dca6b

المؤلفون: Venâncio, Pedro Filipe Carneiro

مصطلحات موضوعية: Next generation sequencing (NGS), Bioinformatics, Genomic data analysis, Depth of coverage, Breadth of coverage, Samtools, Gene panels, Exome, Single gene

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10773/43561

المؤلفون: Monika Kozłowska-Geller, Piotr Lewitowicz, Monika Wawszczak-Kasza, Łukasz Nawacki, Jarosław Matykiewicz, Stanisław Głuszek

المصدر: Studia Medyczne, Vol 40, Iss 4, Pp 331-335 (2024)

مصطلحات موضوعية: colorectal cancer, genomic era, next-generation-sequencing (ngs), personalised medicine., Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Analysis-of-the-multigene-molecular-panel-for-colorectal-cancer-in-patients-under-50-years-of-age-the-preliminary-results-of-the-Polish-department,67,54989,1,1.html; https://doaj.org/toc/1899-1874; https://doaj.org/toc/2300-6722

URL الوصول: https://doaj.org/article/f31525c8cd184ed19c51bf31b9d70ab4

المؤلفون: Anna Cho

المصدر: Genomics & Informatics, Vol 22, Iss 1, Pp 1-4 (2024)

مصطلحات موضوعية: Neuromuscular diseases, Genomics, Gene therapy, Next-generation sequencing (NGS), Rare genetic disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2234-0742

URL الوصول: https://doaj.org/article/51c571fa520a47f6b580de2ce255279b

المؤلفون: Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D’Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano, Rodolfo Iuliano

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 11, Pp 13003-13020 (2024)

مصطلحات موضوعية: breast cancer (BC), next-generation sequencing (NGS), germline variants, cancer susceptibility genes, founder mutations, genetic heterogeneity, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/11/775; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/a80b8401fe1d4c9b82ea515f1013b3a8

المؤلفون: Yuyang Wang, Panpan Xu, Yelin Han, Wenliang Zhao, Lamei Zhao, Rui Li, Junpeng Zhang, Shuyi Zhang, Jian Lu, Peter Daszak, Qi Jin, Zhiqiang Wu

المصدر: Microbiome, Vol 12, Iss 1, Pp 1-17 (2024)

مصطلحات موضوعية: Chiroptera, Bat-borne viruses, Next Generation Sequencing (NGS), Virome, Virus taxonomy, Microbial ecology, QR100-130

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2049-2618

URL الوصول: https://doaj.org/article/0a2fa568a143441a95f10de0543454ca

المؤلفون: Gunhwan Ko, Pan-Gyu Kim, Byung-Ha Yoon, JaeHee Kim, Wangho Song, IkSu Byeon, JongCheol Yoon, Byungwook Lee, Young-Kuk Kim

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Closha 2.0, Next-generation sequencing (NGS), Cloud computing, Bioinformatics workflow, High-performance computing (HPC), Genomic data analysis, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/bcd56411bb8e4c71ba54f44a0f1f2016

المؤلفون: Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Inherited metabolic diseases (IMDs), Next generation sequencing (NGS), Undiagnosed Diseases Network (UDN), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5009f7b9676c4d17bda5092fd4409131

المؤلفون: Shrinjana Dhar, Pritha Bhattacharjee

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Polycystic ovarian syndrome (PCOS), Next-generation sequencing (NGS), Clinical-exome sequencing (CES), Comorbidity analysis, Mutation-phenotype interactions, Molecular screening, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/645e6b939ecc47ffbd270aa0b1b2b603

المؤلفون: Nicolas Luna, Luisa Páez-Triana, Angie L. Ramírez, Marina Muñoz, Marcela Goméz, Julián E. Medina, Plutarco Urbano, Karen Barragán, Catalina Ariza, Davinzon Martínez, Carolina Hernández, Luz H. Patiño, Juan David Ramirez

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Microbial communities, Bat body fluids, Next-generation sequencing (NGS), Zoonotic diseases, Pathogen transmission, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/2a72d172da4a46e6a08f30f54fdcd111

المؤلفون: Mehrdad Mirzarahimi, Mohammad Panahi, Bahareh Rahimi, Ehsan Abbaspour Rodboneh, Shadi Abkhiz, Tannaz Fattahi, Sara Arish, Behzad Davarnia

المصدر: Discover Applied Sciences, Vol 6, Iss 11, Pp 1-12 (2024)

مصطلحات موضوعية: TPO gene, Congenital hypothyroidism, Next-generation sequencing (NGS), Iranian Azeri population, Science (General), Q1-390

وصف الملف: electronic resource

Relation: https://doaj.org/toc/3004-9261

URL الوصول: https://doaj.org/article/07ce059acff24821b4d89fbf6cb8a46c

المؤلفون: Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

المصدر: Frontiers in Immunology, Vol 16 (2025)

مصطلحات موضوعية: Wiskott-Aldrich, WASP, splice-site mutation, next-generation sequencing (NGS), gene panel, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2025.1517347/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/c1f0b4d1c75c4b8582243f632305745b

المؤلفون: Hanxin Kong, Hao Ying, Jianhong Yang

المصدر: Frontiers in Medicine, Vol 11 (2025)

مصطلحات موضوعية: Ralstonia mannitolilytica, next generation sequencing (NGS), intracranial infection, uremic, peritoneal dialysis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1513771/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/41195f573c3e443db553b05e465f0bac

المؤلفون: Che Kang Lim, Hassan Abolhassani, Jinqiao Sun

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: immunological diseases, genetics, primary immumunodeficiencies, autoimmune diseases, allergy diseases, next-generation sequencing (NGS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1530187/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e87717bc551f4357bc31133dd5f35ab6