نتایج جستجو برای: لاگ ngs

تعداد نتایج: 5426  

Journal: :Journal of medical genetics 2012
James O'Sullivan Brendan G Mullaney Sanjeev S Bhaskar Jonathan E Dickerson Georgina Hall Anna O'Grady Andrew Webster Simon C Ramsden Graeme C Black

OBJECTIVES Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study examines the possibility of incorporating NGS into a clinical UK service context...

2015
Danielle Mercatante Carrick Michele G. Mehaffey Michael C. Sachs Sean Altekruse Corinne Camalier Rodrigo Chuaqui Wendy Cozen Biswajit Das Brenda Y. Hernandez Chih-Jian Lih Charles F. Lynch Hala Makhlouf Paul McGregor Lisa M. McShane JoyAnn Phillips Rohan William D. Walsh Paul M. Williams Elizabeth M. Gillanders Leah E. Mechanic Sheri D. Schully Zhuang Zuo

Next Generation Sequencing (NGS) technologies are used to detect somatic mutations in tumors and study germ line variation. Most NGS studies use DNA isolated from whole blood or fresh frozen tissue. However, formalin-fixed paraffin-embedded (FFPE) tissues are one of the most widely available clinical specimens. Their potential utility as a source of DNA for NGS would greatly enhance population-...

2014
Tsung-Jung Wu Amirhossein Shamsaddini Yang Pan Krista Smith Daniel J. Crichton Vahan Simonyan Raja Mazumder

Years of sequence feature curation by UniProtKB/Swiss-Prot, PIR-PSD, NCBI-CDD, RefSeq and other database biocurators has led to a rich repository of information on functional sites of genes and proteins. This information along with variation-related annotation can be used to scan human short sequence reads from next-generation sequencing (NGS) pipelines for presence of non-synonymous single-nuc...

2010
R.M. Ruggeri E. Vitarelli G. Barresi F. Trimarchi S. Benvenga M. Trovato

Hepatocyte growth factor (HGF) exerts proliferative activities in thyrocytes upon binding to its tyrosine kinase receptor c-met and is also expressed in benign thyroid nodules as well as in Hashimoto's thyroiditis (HT). The simultaneous expression of HGF/c-met and three trasducers of tyrosine kinase receptors (STAT3, PI3K, RHO) in both the nodular and extranodular tissues were studied by immuno...

2014
Yoshiki Murakami Toshihito Tanahashi Rina Okada Hidenori Toyoda Takashi Kumada Masaru Enomoto Akihiro Tamori Norifumi Kawada Y-h Taguchi Takeshi Azuma

MicroRNA (miRNA) expression profiling has proven useful in diagnosing and understanding the development and progression of several diseases. Microarray is the standard method for analyzing miRNA expression profiles; however, it has several disadvantages, including its limited detection of miRNAs. In recent years, advances in genome sequencing have led to the development of next-generation seque...

2010
Paul Richardson

Next Generation Sequencing (NGS) refers to technologies that do not rely on traditional dideoxy-nucleotide (Sanger) sequencing where labeled DNA fragments are physically resolved by electrophoresis. These new technologies rely on different strategies, but essentially all of them make use of real-time data collection of a base level incorporation event across a massive number of reactions (on th...

Journal: :Investigative ophthalmology & visual science 2016
Thomas Wecker Klaus Hoffmeier Anne Plötner Björn Andreas Grüning Ralf Horres Rolf Backofen Thomas Reinhard Günther Schlunck

PURPOSE Extracellular microRNAs (miRNAs) in aqueous humor were suggested to have a role in transcellular signaling and may serve as disease biomarkers. The authors adopted next-generation sequencing (NGS) techniques to further characterize the miRNA profile in single samples of 60 to 80 μL human aqueous humor. METHODS Samples were obtained at the outset of cataract surgery in nine independent...

2018
Ari Vanderwalde David Spetzler Nianqing Xiao Zoran Gatalica John Marshall

Microsatellite instability (MSI) testing identifies patients who may benefit from immune checkpoint inhibitors. We developed an MSI assay that uses data from a commercially available next-generation sequencing (NGS) panel to determine MSI status. The assay is applicable across cancer types and does not require matched samples from normal tissue. Here, we describe the MSI-NGS method and explore ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2013
Fiamma Buttitta Lara Felicioni Maela Del Grammastro Giampaolo Filice Alessia Di Lorito Sara Malatesta Patrizia Viola Irene Centi Tommaso D'Antuono Roberta Zappacosta Sandra Rosini Franco Cuccurullo Antonio Marchetti

PURPOSE The therapeutic choice for patients with lung adenocarcinoma depends on the presence of EGF receptor (EGFR) mutations. In many cases, only cytologic samples are available for molecular diagnosis. Bronchoalveolar lavage (BAL) and pleural fluid, which represent a considerable proportion of cytologic specimens, cannot always be used for molecular testing because of low rate of tumor cells....

2017
Stéphanie Raymond Florence Nicot Nicolas Jeanne Olivier Delfour Romain Carcenac Caroline Lefebvre Michelle Cazabat Karine Sauné Pierre Delobel Jacques Izopet

The coreceptor used by HIV-1 must be determined before a CCR5 antagonist, part of the arsenal of antiretroviral drugs, is prescribed because viruses that enter cells using the CXCR4 coreceptor are responsible for treatment failure. HIV-1 tropism is also correlated with disease progression and so must be determined for virological studies. Tropism can be determined by next-generation sequencing ...

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