scholarly journals Development of a High-Throughput Process for Detection and Screening of Genetic Polymorphisms

BioTechniques ◽  
2000 ◽  
Vol 28 (5) ◽  
pp. 994-1005 ◽  
Author(s):  
John H. Leamon ◽  
Andrew Moiseff ◽  
Joseph F. Crivello
Keyword(s):  
Genetic Polymorphisms ◽  
High Throughput

Genetic polymorphisms of histamine degrading enzymes: From small-scale screening to high-throughput routine testing

2003 ◽  
Vol 52 (0) ◽  
pp. s71-s73 ◽  
Author(s):  
H. G. Schwelberger ◽  
A. Drasche ◽  
J. Petersen ◽  
M. Raithel
Keyword(s):  
Genetic Polymorphisms ◽  
High Throughput ◽  
Small Scale ◽  
Routine Testing ◽  
Degrading Enzymes

scholarly journals Enabling Large-Scale Pharmacogenetic Studies by High-Throughput Mutation Detection and Genotyping Technologies

2001 ◽  
Vol 47 (2) ◽  
pp. 164-172 ◽  
Author(s):  
Michael M Shi
Keyword(s):  
Genetic Polymorphisms ◽  
High Throughput ◽  
Large Scale ◽  
Mutation Detection ◽  
Mutation Screening ◽  
Sequence Information ◽  
Polymorphism Analysis ◽  
Vast Number ◽  
Individual Variations ◽  
Oligonucleotide Ligation Assay

Abstract Background: Pharmacogenetics is a scientific discipline that examines the genetic basis for individual variations in response to therapeutics. Pharmacogenetics promises to develop individualized medicines tailored to patients’ genotypes. However, identifying and genotyping a vast number of genetic polymorphisms in large populations also pose a great challenge. Approach: This article reviews the recent technology development in mutation detection and genotyping with a focus on genotyping of single nucleotide polymorphisms (SNPs). Content: Novel mutations/polymorphisms are commonly identified by conformation-based mutation screening and direct high-throughput heterozygote sequencing. With a large amount of public sequence information available, in silico SNP mapping has also emerged as a cost-efficient way for new polymorphism identification. Gel electrophoresis-based genotyping methods for known polymorphisms include PCR coupled with restriction fragment length polymorphism analysis, multiplex PCR, oligonucleotide ligation assay, and minisequencing. Fluorescent dye-based genotyping technologies are emerging as high-throughput genotyping platforms, including oligonucleotide ligation assay, pyrosequencing, single-base extension with fluorescence detection, homogeneous solution hybridization such as TaqMan®, and molecular beacon genotyping. Rolling circle amplification and InvaderTM assays are able to genotype directly from genomic DNA without PCR amplification. DNA chip-based microarray and mass spectrometry genotyping technologies are the latest development in the genotyping arena. Summary: Large-scale genotyping is crucial to the identification of the genetic make-ups that underlie the onset of diseases and individual variations in drug responses. Enabling technologies to identify genetic polymorphisms rapidly, accurately, and cost effectively will dramatically impact future drug and development processes.

154: Integration of TPSA and High-Throughput Mass Spectrometry Data Improves Prostate Cancer Prediction

2007 ◽  
Vol 177 (4S) ◽  
pp. 52-53
Author(s):  
Stefano Ongarello ◽  
Eberhard Steiner ◽  
Regina Achleitner ◽  
Isabel Feuerstein ◽  
Birgit Stenzel ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Mass Spectrometry ◽  
High Throughput ◽  
Mass Spectrometry Data ◽  
Cancer Prediction

259: Dna-Repair Genetic Polymorphisms and Prostate Cancer Risk

2005 ◽  
Vol 173 (4S) ◽  
pp. 71-71
Author(s):  
Peter E. Clark ◽  
M. Craig Hall ◽  
Kristin L. Lockett ◽  
Jianfeng Xu ◽  
Sigun L. Zheng ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Cancer Risk ◽  
Genetic Polymorphisms ◽  
Prostate Cancer Risk
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