نتایج جستجو برای: snapshot genotyping

تعداد نتایج: 31729  

Journal: :iranian journal of public health 0
liya liu 1. dept. of epidemiology and health statistics, school of public health, central south university , changsha, china . ; 2. dept. of medical laboratory, hunan university of medicine , huaihua, china. lizhang chen 1. dept. of epidemiology and health statistics, school of public health, central south university , changsha, china . zhanzhan li 1. dept. of epidemiology and health statistics, school of public health, central south university , changsha, china . liang li 3. medical department of the first affiliated hospital of xiangya, central south university , changsha, china. jian qu 4. the institute of clinical pharmacology, central south university , changsha, china. jing xue 1. dept. of epidemiology and health statistics, school of public health, central south university , changsha, china .

there are much heterogeneity in the genetic variation of type 2 diabetes (t2d). the purpose of this study was to investigate the association of seven novel genetic loci identified in a recent genome-wide association studies (gwas) with t2d in chinese dong populations.a case-controlled study was performed in individuals of chinese dong nationality. the genotypes of pard3b (rs849230), loc729993 (...

Journal: :Forensic science review 2017
M Fondevila C Børsting C Phillips M de la Puente Euroforen-NoE Consortium A Carracedo N Morling M V Lareu

This review explores the key factors that influence the optimization, routine use, and profile interpretation of the SNaPshot single-base extension (SBE) system applied to forensic single-nucleotide polymorphism (SNP) genotyping. Despite being a mainly complimentary DNA genotyping technique to routine STR profiling, use of SNaPshot is an important part of the development of SNP sets for a wide ...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2011
L V Sequist R S Heist A T Shaw P Fidias R Rosovsky J S Temel I T Lennes S Digumarthy B A Waltman E Bast S Tammireddy L Morrissey A Muzikansky S B Goldberg J Gainor C L Channick J C Wain H Gaissert D M Donahue A Muniappan C Wright H Willers D J Mathisen N C Choi J Baselga T J Lynch L W Ellisen M Mino-Kenudson M Lanuti D R Borger A J Iafrate J A Engelman D Dias-Santagata

BACKGROUND Personalizing non-small-cell lung cancer (NSCLC) therapy toward oncogene addicted pathway inhibition is effective. Hence, the ability to determine a more comprehensive genotype for each case is becoming essential to optimal cancer care. METHODS We developed a multiplexed PCR-based assay (SNaPshot) to simultaneously identify >50 mutations in several key NSCLC genes. SNaPshot and FIS...

Journal: :The Indian journal of medical research 2009
Gauri Kapoor Arindam Maitra Vani Brahmachari

BACKGROUND & OBJECTIVE Mercaptopurine, azathioprine, and thioguanine, used as antineoplastic agents and immunosuppressants are catabolized by thiopurine methyltransferase (TPMT) enzyme, which exhibits genetic polymorphism. Genotyping patients and the population to which the patients belong, is important for effective treatment and reducing toxicity. There is a need for faster methods for genoty...

2012
ELENA FABBrI NADIA MuCCI H. P. THOMSEN K. KrAg C. PErTOLDI V. LOESCHCKE E. rANDI

Single nucleotide polymorphisms (SNPs) which represent the most widespread source of sequence variation in genomes, are becoming a routine application in several fields such as forensics, ecology and conservation genetics. Their use, requiring short amplifications, may allow a more efficient genotyping of degraded DNA. We provide the first application of SNP genotyping in an Italian non-invasiv...

2010
Elizabeth Unger

Content: 1. Towards Standardized Extraction from Formalin-Fixed Paraffin-Embedded Tissue 2. Study Comparing Commercially Available HPV Genotyping Assays 3. An Update: HPV LabNet International Collaborative Studies 4. HPV LabNet Regional Reference Laboratory Activities: A Snapshot 5. Meeting Reports/Updates 6. Recent Publications of WHO HPV LabNet work 7. Useful Web Links 8. Contributions for Ne...

Journal: :Journal of clinical microbiology 2015
A Touati Y Blouin P Sirand-Pugnet H Renaudin T Oishi G Vergnaud C Bébéar S Pereyre

Molecular typing of Mycoplasma pneumoniae is an important tool for identifying grouped cases and investigating outbreaks. In the present study, we developed a new genotyping method based on single nucleotide polymorphisms (SNPs) selected from the whole-genome sequencing of eight M. pneumoniae strains, using the SNaPshot minisequencing assay. Eight SNPs, localized in housekeeping genes, predicte...

2015
Nicolas Piton Francesco Borrini Antonio Bolognese Aude Lamy Jean-Christophe Sabourin

KRAS genotyping is mandatory in metastatic colorectal cancer treatment prior to undertaking antiepidermal growth factor receptor (EGFR) monoclonal antibody therapy. BRAF V600E mutation is often present in colorectal carcinoma with CpG island methylator phenotype and microsatellite instability. Currently, KRAS and BRAF evaluation is based on molecular biology techniques such as SNaPshot or Sange...

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