P114 Validation of high resolution HLA typing using NXTypeTM Ion-Torrent next generation sequencing. The University of Miami experience

2016 ◽  
Vol 77 ◽  
pp. 121
Author(s):  
Dania Mateu ◽  
Emilio Margolles-Clark ◽  
Ana Hernandez ◽  
Phillip Ruiz
Keyword(s):  
Next Generation Sequencing ◽  
High Resolution ◽  
Hla Typing ◽  
Ion Torrent ◽  
Next Generation ◽  
University Of Miami ◽  
The University ◽  
Generation Sequencing

scholarly journals High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing

2020 ◽  
Vol 11 ◽  
Author(s):  
Minh Duc Do ◽  
Linh Gia Hoang Le ◽  
Vinh The Nguyen ◽  
Tran Ngoc Dang ◽  
Nghia Hoai Nguyen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
High Resolution ◽  
Hla Typing ◽  
Next Generation ◽  
Generation Sequencing

Abstract 2764: High-resolution HLA typing by next-generation sequencing and risk of follicular lymphoma

2011 ◽  
Author(s):  
Nicholas K. Akers ◽  
Lucia Conde ◽  
Martyn T. Smith ◽  
Paige M. Bracci ◽  
Christine F. Skibola
Keyword(s):  
Next Generation Sequencing ◽  
High Resolution ◽  
Follicular Lymphoma ◽  
Hla Typing ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052096777
Author(s):  
Peisong Chen ◽  
Xuegao Yu ◽  
Hao Huang ◽  
Wentao Zeng ◽  
Xiaohong He ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Ion Torrent ◽  
Next Generation ◽  
Large Deletions ◽  
Different Types ◽  
Variant Detection ◽  
Polymerase Chain ◽  
Next Generation Sequencing Ngs ◽  
Accuracy And Repeatability ◽  
Generation Sequencing

Introduction To evaluate a next-generation sequencing (NGS) workflow in the screening and diagnosis of thalassemia. Methods In this prospective study, blood samples were obtained from people undergoing genetic screening for thalassemia at our centre in Guangzhou, China. Genomic DNA was polymerase chain reaction (PCR)-amplified and sequenced using the Ion Torrent system and results compared with traditional genetic analyses. Results Of the 359 subjects, 148 (41%) were confirmed to have thalassemia. Variant detection identified 35 different types including the most common. Identification of the mutational sites by NGS were consistent with those identified by Sanger sequencing and Gap-PCR. The sensitivity and specificities of the Ion Torrent NGS were 100%. In a separate test of 16 samples, results were consistent when repeated ten times. Conclusion Our NGS workflow based on the Ion Torrent sequencer was successful in the detection of large deletions and non-deletional defects in thalassemia with high accuracy and repeatability.

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