scholarly journals Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

10.3791/59895 ◽  
2019 ◽  
Author(s):  
Michael Seager ◽  
Dara L. Aisner ◽  
Kurtis D. Davies
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Multiplex Polymerase Chain Reaction ◽  
Gene Fusion ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Oncogenic Gene ◽  
Generation Sequencing ◽  
Fusion Detection

Next-generation sequencing ofHLA-Gbased on long-range polymerase chain reaction

HLA ◽  
2018 ◽  
Vol 92 (3) ◽  
pp. 144-153 ◽  
Author(s):  
L. L. Nilsson ◽  
T. Funck ◽  
N. D. Kjersgaard ◽  
T. V. F. Hviid
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Long Range ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Generation Sequencing

scholarly journals Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

2011 ◽  
Vol 13 (11) ◽  
pp. 921-932 ◽  
Author(s):  
Melanie A. Jones ◽  
Shruti Bhide ◽  
Ephrem Chin ◽  
Bobby G. Ng ◽  
Devin Rhodenizer ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Diagnostic Testing ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Generation Sequencing

P135 Determination of the whole HLA-DQB1 ∗ 06:37 sequence by the combination of long range polymerase chain reaction, next generation sequencing and phasing

2016 ◽  
Vol 77 ◽  
pp. 137
Author(s):  
Marco Schäfer ◽  
Wolfgang Peter ◽  
Anna-Lena Hansen ◽  
Uwe Kordes ◽  
Hartmut Kabisch ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Long Range ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Generation Sequencing

Diagnostik der Sepsis – Teil 2: Erregeridentifikation

2019 ◽  
Vol 54 (01) ◽  
pp. 38-48 ◽  
Author(s):  
Daniel Richter ◽  
Alexandra Heininger ◽  
Karsten Schmidt ◽  
Thomas Schmoch ◽  
Michael Bernhard ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Chain Reaction ◽  
Antimikrobielle Therapie ◽  
Polymerase Chain ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Kritisch Kranker

ZusammenfassungIm Rahmen der Sepsis und des septischen Schocks spielen, trotz der zunehmenden Verbreitung von neuen molekularbiologischen Verfahren, der kulturelle Erregernachweis und die Resistenztestung weiterhin die entscheidende Rolle in der antimikrobiellen Therapie auf der Intensivstation. Hierbei kann der Erregernachweis für die antimikrobielle Therapie einerseits direkt aus dem Patientenblut, andererseits aber auch aus diversen anderen Probenmaterialien (respiratorische Sekrete, Punktat, intraoperative Abstriche etc.) geführt werden. Ein Nachteil konventioneller kultureller Verfahren im Kontext kritisch kranker Patienten ist die zeitliche Latenz bis zum Erregernachweis bzw. zum Ergebnis der Resistenztestung. Molekularbiologische Verfahren wie Techniken der Erregerdiagnostik und Resistenztestung, die auf Polymerase Chain Reaction (PCR) oder vor allem Next-Generation Sequencing (NGS) basieren, versprechen hier zwar kürzere Umlaufzeiten, sind aber aktuell noch kein klinischer Standard. Trotzdem besitzen diese Verfahren das Potenzial, einen Paradigmenwechsel in der Erregerdiagnostik herbeizuführen.

scholarly journals Comparison of next generation sequencing, SNaPshot assay and real-time polymerase chain reaction for lung adenocarcinoma EGFR mutation assessment

2016 ◽  
Vol 16 (1) ◽  
Author(s):  
Andrei-Tudor Cernomaz ◽  
Ina Iuliana Macovei ◽  
Ionut Pavel ◽  
Carmen Grigoriu ◽  
Mihai Marinca ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Lung Adenocarcinoma ◽  
Real Time ◽  
Egfr Mutation ◽  
Next Generation ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Generation Sequencing

scholarly journals Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 856 ◽  
Author(s):  
Miguel Angel Alcántara-Ortigoza ◽  
Miriam Erandi Reyna-Fabián ◽  
Ariadna González-del Angel ◽  
Bernardette Estandia-Ortega ◽  
Cesárea Bermúdez-López ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
Multiplex Polymerase Chain Reaction ◽  
Pediatric Age ◽  
Chain Reaction ◽  
Male Patients ◽  
Polymerase Chain ◽  
Dmd Gene ◽  
Generation Sequencing

The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by multiplex ligation-dependent probe amplification (MLPA). Those with a normal result were subjected to Sanger sequencing or to next-generation sequencing for DMD plus 10 selected LGMD-related genes. We achieved a diagnostic genotype in 80.5% (n = 58/72) of patients with predominance of dystrophinopathy-linked genotypes (68%, n = 49/72), followed by autosomal recessive LGMD-related genotypes (types 2A-R1, 2C-R5, 2E-R4, 2D-R3 and 2I-R9; 12.5%, n = 9/72). MLPA showed 4.2% of false-negatives for DMD deletions assessed by mPCR. Among the small DMD variants, 96.5% (n = 28/29) corresponded to null-alleles, most of which (72%) were inherited through a carrier mother. The FKRP p.[Leu276Ile]; [Asn463Asp] genotype is reported for the first time in Mexican patients as being associated with dilated cardiomyopathy. Absence of dysferlinopathies could be related to the small sample size and/or the predominantly pediatric age of patients. The employed strategy seems to be an affordable diagnosis approach for Mexican muscular dystrophy male patients and their families.

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