نتایج جستجو برای: snapshot genotyping

تعداد نتایج: 31729  

Alireza Rafati, Amir Hashem Mohammadi, Arash Sarveazad, Hasan Bahmani, Mahmoud Tavallaei, Mostafa Hosseini, Mostafa Naderi,

Introduction: Human eye colour as a physical trait is based on the developmental biology and genetic determinants of the structure known as the iris, which is part of the uveal tract of the eye. Prediction of human visible characteristics (EVCs) by genotyping informative SNPs in DNA as biological witness opens up a new avenue in the forensic genetic. Variation of iris color rely on the amounts...

Journal: :Current protocols in human genetics 2003
Martin Ingelsson Youngah Shin Michael C Irizarry Bradley T Hyman Lena Lilius Charlotte Forsell Caroline Graff

Disease-associated gene polymorphisms provide both scientific insight into pathophysiological mechanisms and clinical information regarding risk and progression. Of special interest is the epsilon4 allele of the apolipoprotein E gene, which has emerged as a substantial risk factor for late-onset forms of Alzheimer disease and also influences the risk of cardiovascular disease. Genotyping of apo...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2013
Valentina Nardi Peter M Sadow Dejan Juric Dave Zhao Arjola K Cosper Kristin Bergethon Vanessa L Scialabba Julie M Batten Darrell R Borger Anthony John Iafrate Rebecca S Heist Donald P Lawrence Keith T Flaherty Johanna C Bendell Daniel Deschler Yi Li Lori J Wirth Dora Dias-Santagata

PURPOSE Salivary duct carcinomas (SDC) are a rare and aggressive subtype of salivary gland cancers for which cytotoxic chemotherapy has limited efficacy. We investigated whether genotyping analysis could detect novel tumor-specific mutations that would help direct SDC patient treatment using targeted agents. EXPERIMENTAL DESIGN We genotyped 27 SDC archival specimens from patients followed at ...

Journal: :Molecular ecology resources 2015
Libor Mořkovský Jan Pačes Jakub Rídl Radka Reifová

With the rise of next-generation sequencing methods, it has become increasingly possible to obtain genomewide sequence data even for nonmodel species. Such data are often used for the development of single nucleotide polymorphism (SNP) markers, which can subsequently be screened in a larger population sample using a variety of genotyping techniques. Many of these techniques require appropriate ...

Journal: :Nucleic Acids Research 2005
Zachary A. Kaminsky Abbas Assadzadeh James Flanagan Arturas Petronis

The development and use of high throughput technologies for detailed mapping of methylated cytosines (metC) is becoming of increasing importance for the expanding field of epigenetics. The single nucleotide primer extension reaction used for genotyping of single nucleotide polymorphisms has been recently adapted to interrogate the bisulfite modification induced 'quantitative' C/T polymorphism t...

2005
Zachary A. Kaminsky Abbas Assadzadeh James Flanagan Arturas Petronis

The development and use of high throughput technologies for detailed mapping of methylated cytosines (C) is becoming of increasing importance for the expanding field of epigenetics. The single nucleotide primer extension reaction used for genotyping of single nucleotide polymorphisms has been recently adapted to interrogate the bisulfite modification induced ‘quantitative’ C/T polymorphism that...

Journal: :Journal of clinical microbiology 2010
C Bouakaze C Keyser S J de Martino W Sougakoff N Veziris H Dabernat B Ludes

The aim of the present study was to investigate the use of the SNaPshot minisequencing method for the identification of Mycobacterium tuberculosis complex (MTBC) isolates to the species level and for further genotyping of M. tuberculosis isolates. We developed an innovative strategy based on two multiplex allele-specific minisequencing assays that allowed detection of eight species-specific and...

2015
Elizabeth O'Donnell Anuj Mahindra Andrew J. Yee Valentina Nardi Nicole Birrer Nora Horick Darrell Borger Dianne Finkelstein John A. Iafrate Noopur Raje

Whole genome sequencing studies have identified several oncogenic mutations in multiple myeloma (MM). As MM progresses, it evolves genetically underscoring the need to have tools for rapid detection of targetable mutations to optimize individualized treatment. Massachusetts General Hospital (MGH) has developed a Clinical Laboratory Improvement Amendments (CLIA)-approved, high-throughput, genoty...

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