نتایج جستجو برای: mutation detection method

تعداد نتایج: 2333870  

Journal: :international journal of electrical and electronics engineering 0
ali abouei mehrizi siamak najarian majid moiniiii

nowadays, one of the main problems encountered in minimally invasive surgery and telesurgery is the detection of arteries in tissue. in this study, for the first time, tactile detection of an artery in tissue and distinguishing it from the tumor has been modeled by finite element method. in this modeling, three 2d models of tissue have been created: tissue, tissue including a tumor, and tissue ...

A. Zahedmehr, M. Lak R. Sharifian S. Delmaghani S. Zeinali

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency.  Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...

Journal: :QJM : monthly journal of the Association of Physicians 2016
Kyueng-Whan Min Wan-Seop Kim Se Jin Jang Yoo Duk Choi Sunhee Chang Soon Hee Jung Lucia Kim Mee Sook Roh Choong Sik Lee Jung Weon Shim Mi Jin Kim Geon Kook Lee

BACKGROUND The importance of sensitive methods for the detection of epidermal growth factor receptor (EGFR) mutation is emphasized. The aim of this study is to perform comparative and concordance analyses of direct sequencing, pyrosequencing and peptide nucleic acid (PNA) clamping for detecting EGFR gene mutations using archived tissue and cytology specimens. METHODS Samples from a total of 1...

2010
Valerie Ugo Sylvie Tondeur Marie-Laurence Menot Nadine Bonnin Gerald Le Gac Carole Tonetti Veronique Mansat-De Mas Lydie Lecucq Jean-Jacques Kiladjian Christine Chomienne Christine Dosquet Nathalie Parquet Luc Darnige Marc Porneuf Martine Escoffre-Barbe Stephane Giraudier Eric Delabesse Bruno Cassinat

BACKGROUND Myeloproliferative disorders are characterized by clonal expansion of normal mature blood cells. Acquired mutations giving rise to constitutive activation of the JAK2 tyrosine kinase has been shown to be present in the majority of patients. Since the demonstration that the V617F mutation in the exon 14 of the JAK2 gene is present in about 90% of patients with Polycythemia Vera (PV), ...

2012
Patrick Flaherty Georges Natsoulis Omkar Muralidharan Mark Winters Jason Buenrostro John Bell Sheldon Brown Mark Holodniy Nancy Zhang Hanlee P. Ji

With next-generation DNA sequencing technologies, one can interrogate a specific genomic region of interest at very high depth of coverage and identify less prevalent, rare mutations in heterogeneous clinical samples. However, the mutation detection levels are limited by the error rate of the sequencing technology as well as by the availability of variant-calling algorithms with high statistica...

2004
Vadim Okun

Mutation analysis is a fault-based testing technique that uses mutation operators to introduce small changes into a program or specification, producing mutants, and then chooses test cases to distinguish the mutants from the original. Mutation operators differ in the coverage they get. They also differ in the number of mutants they generate. Consequently, selecting mutation operators is an impo...

2014
Najie Song Xueting Zhong Qingge Li

Detection of somatic mutations for targeted therapy is increasingly used in clinical settings. However, due to the difficulties of detecting rare mutations in excess of wild-type DNA, current methods often lack high sensitivity, require multiple procedural steps, or fail to be quantitative. We developed real-time bidirectional pyrophosphorolysis-activated polymerization (real-time Bi-PAP) that ...

2015
Rihwa Choi Kyung Sun Park Jong-Won Kim Chang-Seok Ki

BACKGROUND Several molecular assays have been developed to detect the BRAF V600E mutation in fine needle aspirates (FNAs) for the diagnosis of papillary thyroid cancer. Using a multiplex PCR technique, we evaluated the Anyplex BRAF V600E Real-time Detection (Anyplex) assay and compared its efficacy with that of the Seeplex BRAF V600E ACE Detection (Seeplex) method. METHODS We tested 258 conse...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2013
M Ilie E Long V Hofman B Dadone C H Marquette J Mouroux J M Vignaud H Begueret J P Merlio D Capper A von Deimling J F Emile P Hofman

BACKGROUND Non-small-cell lung carcinoma (NSCLC) patients with a BRAF(V600E) mutation benefit from targeted therapy. The usefulness of immunohistochemistry (IHC) as an alternative approach for the detection of BRAF(V600E) in NSCLC patients has not been evaluated until now. This study compared the specificity and sensitivity of IHC with other methods for the detection of BRAF(V600E) in primary l...

Journal: :Cancer research 2000
S Chakrabarti B D Price S Tetradis E A Fox Y Zhang G Maulik G M Makrigiorgos

Cancer research would greatly benefit from technologies that allow simultaneous screening of several unknown gene mutations. Lack of such methods currently hampers the large-scale detection of genetic alterations in complex DNA samples. We present a novel mismatch-capture methodology for the highly efficient isolation and amplification of mutation-containing DNA from diverse nucleic acid fragme...

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