منابع مشابه
Pharmacogenetic Application of High-Throughput Mutation Detection and Genotyping Technologies
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. This article will address the recent technolog...
متن کاملHigh-Throughput SNP Genotyping
Whole genome approaches using single nucleotide polymorphism (SNP) markers have the potential to transform complex disease genetics and expedite pharmacogenetics research. This has led to a requirement for high-throughput SNP genotyping platforms. Development of a successful high-throughput genotyping platform depends on coupling reliable assay chemistry with an appropriate detection system to ...
متن کاملHigh-throughput sequencing technologies.
The human genome sequence has profoundly altered our understanding of biology, human diversity, and disease. The path from the first draft sequence to our nascent era of personal genomes and genomic medicine has been made possible only because of the extraordinary advancements in DNA sequencing technologies over the past 10 years. Here, we discuss commonly used high-throughput sequencing platfo...
متن کاملHigh-throughput genotyping with single nucleotide polymorphisms.
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the use of the TaqMan or 5' nuclease allelic discrimination assay for typing large numbers of individuals with any SNP and computational methods that allow genotypes to be assigned automatically. To dem...
متن کاملWTSI High-throughput Genotyping Quality Assessment & Control
Description The Genotyping Facility at the Wellcome Trust Sanger Institute (WTSI) is operated by Team 67 – Genetics of complex traits in humans, led by Panos Deloukas. While the quality control (QC) pipeline extends from sample reception (DNA collections team) to the secure end-point dissemination of the genotype data, herein we concentrate primarily on the bioinformatic characterization and fi...
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ژورنال
عنوان ژورنال: Briefings in Functional Genomics and Proteomics
سال: 2002
ISSN: 1473-9550,1477-4062
DOI: 10.1093/bfgp/1.2.139