Cargando…

Key considerations for comprehensive validation of an RNA fusion NGS panel

OBJECTIVES: Validation of RNA-based NGS assays for the detection of therapeutically targetable gene fusions is challenging. Here, we report systematic validation and quality control monitoring of our targeted fusion panel for the detection of 17 clinically relevant fusion transcripts across several...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barua, Subit, Wang, Gary, Mansukhani, Mahesh, Hsiao, Susan, Fernandes, Helen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322345/ https://www.ncbi.nlm.nih.gov/pubmed/32613069 http://dx.doi.org/10.1016/j.plabm.2020.e00173

Ejemplares similares

Targeting SLMAP-ALK—a novel gene fusion in lung adenocarcinoma
por: Pagan, Carlos, et al.
Publicado: (2019)

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
por: Martínez-Fernández, Paula, et al.
Publicado: (2021)

Validation of an NGS mutation detection panel for melanoma
por: Reiman, Anne, et al.
Publicado: (2017)

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients
por: Montaño, Adrián, et al.
Publicado: (2020)

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020)

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
por: Brusius-Facchin, Ana Carolina, et al.
Publicado: (2019)

PB2000: A COMPREHENSIVE NGS PANEL APPROACH FOR CLINICAL GENOMIC ANALYSIS IN HAEMATOLOGICAL MALIGNANCY
por: Mason, Joanne, et al.
Publicado: (2023)

Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
por: Salvo, Mauricio, et al.
Publicado: (2021)

PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
por: Schmidtke, Jörg, et al.
Publicado: (2022)

Establishing an RNA fusions panel in soft tissue sarcoma with clinical validation
por: Huang, Xiaoqiang, et al.
Publicado: (2023)

Development and Validation of a Targeted ‘Liquid’ NGS Panel for Treatment Customization in Patients with Metastatic Colorectal Cancer
por: Kastrisiou, Myrto, et al.
Publicado: (2021)

Technical Validation and Clinical Utility of an NGS Targeted Panel to Improve Molecular Characterization of Pediatric Acute Leukemia
por: Vicente-Garcés, Clara, et al.
Publicado: (2022)

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
por: Ravasi, Giulia, et al.
Publicado: (2021)

Genome-wide analysis of NGS data to compile cancer-specific panels of miRNA biomarkers
por: Bhowmick, Shib Sankar, et al.
Publicado: (2018)

Comprehensive Development and Implementation of Good Laboratory Practice for NGS Based Targeted Panel on Solid Tumor FFPE Tissues in Diagnostics
por: Chougule, Anuradha, et al.
Publicado: (2022)

Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma
por: Hu, Wanming, et al.
Publicado: (2022)

Validity of an NGS-based multiple gene panel in identifying actionable mutations for patients with NSCLC in a Chinese hospital
por: Cao, Wei, et al.
Publicado: (2019)

Clinical utility of custom-designed NGS panel testing in pediatric tumors
por: Surrey, Lea F., et al.
Publicado: (2019)

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
por: Moreno-Cabrera, José Marcos, et al.
Publicado: (2020)

Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia
por: Vega-Garcia, Nerea, et al.
Publicado: (2020)

A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma
por: Hsiao, Susan J., et al.
Publicado: (2017)

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
por: Soukupova, Jana, et al.
Publicado: (2018)

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications
por: La Cognata, Valentina, et al.
Publicado: (2021)

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis
por: Ruark, Elise, et al.
Publicado: (2018)

Folic acid supplementation in pregnancy and implications in health and disease
por: Barua, Subit, et al.
Publicado: (2014)

A duck RH panel and its potential for assisting NGS genome assembly
por: Rao, Man, et al.
Publicado: (2012)

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene
por: Rocca, Maria Santa, et al.
Publicado: (2020)

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
por: García-García, Gema, et al.
Publicado: (2020)

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis
por: Anaclerio, Federico, et al.
Publicado: (2023)

CRCDA—Comprehensive resources for cancer NGS data analysis
por: Thangam, Manonanthini, et al.
Publicado: (2015)

First proficiency testing for NGS‐based and combined NGS‐ and FISH‐based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma
por: Neumann, Olaf, et al.
Publicado: (2023)

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
por: Perez-Carro, Raquel, et al.
Publicado: (2016)

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
por: Povysil, Gundula, et al.
Publicado: (2017)

Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application
por: Hynst, Jakub, et al.
Publicado: (2021)

What’s new in molecular genetic pathology 2021: solid tumors and NGS panel selection
por: Chen, Guoli, et al.
Publicado: (2021)

Molecular Analysis of Biliary Tract Cancers with the Custom 3′ RACE-Based NGS Panel
por: Mitiushkina, Natalia V., et al.
Publicado: (2023)

Analytic and Clinical Validation of a Pan-Cancer NGS Liquid Biopsy Test for the Detection of Copy Number Amplifications, Fusions and Exon Skipping Variants
por: Audetat, Audrey, et al.
Publicado: (2022)

Comprehensive kinome NGS targeted expression profiling by KING-REX
por: Carapezza, Giovanni, et al.
Publicado: (2019)

Expanding the phenotype of ATP6AP1 deficiency
por: Barua, Subit, et al.
Publicado: (2022)

Considerations for Patient Panel Size
por: Harrington, Caroline
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7bhkpmkch7mdntjq7jh5lmq2n0