Product category:
Genomics
News Release from: Perkin Elmer LAS (UK) | Subject: snpscoring.com
Edited by the Laboratorytalk Editorial
Team on 24 October 2002
The beginning of personalised medicine
The SNP effort will serve as the bedrock of pharmacogenomics, the field of personalised medicine: the right drug, in the right dose, to the right person, at the right time
PerkinElmer Life Sciences has launched snpscoring.com, which provides academic and pharmaceutical researchers broad information on single nucleotide polymorphisms (SNP) A significant portion of the website is devoted to education, providing information spanning the history of the Human Genome Project and subsequent scientific outcomes
This article was originally published on Laboratorytalk on 19 Apr 2002 at 8.00am (UK)
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Free of charge to users, snpscoring.com provides detailed assay protocols, tools and publications that reference each procedure.
The website also contains a database containing over 1,500,000 SNP assay designs based on the novel genotyping platform, FP-TDI (template directed dye terminator incorporation with detection by fluorescence polarisation), making SNPscoring.com the most comprehensive resource for this platform.
Originally published by Dr Pui-Yan Kwok, et al and based on single base primer extension, FP-TDI is easy to implement, and flexible in assay design.
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"As a leader in biomedical research and clinical diagnostic tools, PerkinElmer is committed to serve and enable the scientific research community through education and providing tools that will save time and assist with the adoption of new technologies," said Neil Cook, chief scientific officer at PerkinElmer Life Sciences.
"As we further define the human genome and explore emerging molecular biology fields, we envision snpscoring.com as a continuously evolving technological and educational resource to help scientists remain abreast of new theories, discoveries and applications." What are SNPs? Various scientific endeavors had already started even before the completion of the first human genome reference sequence to identify unique genetic differences between individuals.
99.9% of one individual DNA sequence will be identical to that of another person.
Of the 0.1% difference, over 80% will be single nucleotide polymorphisms (SNPs).
An SNP is a single base substitution of one nucleotide with another, and both versions are observed in the general population at a frequency greater than 1%.
By studying SNP profiles, researchers may begin to reveal relevant genes associated with a disease.
Association study can detect and indicate which pattern is most likely associated with the disease-causing genes.
Eventually, SNP profiles that are characteristic of a variety of diseases will be established.
Then, it will only be a matter of time before physicians can screen individuals for susceptibility to a disease just by analysing their DNA samples for specific SNP patterns.
The SNP effort will also serve as the bedrock of pharmacogenomics, the emerging field of personalised medicine: the right drug, in the right dose, to the right person, at the right time.
PerkinElmer's unique comprehensive offering of instruments, chemistry and informatics serves as a key platform for strategic alliances with firms currently engaged in pharmaceutical research and development.
PerkinElmer has commercialised the FP-TDI technology under the brand name of AcycloPrime-FP SNP Detection Systems.
Product offerings include reagent kits, Victor2 FP plate readers, and analysis software.
In addition, PerkinElmer provides automation equipment to researchers with high assay throughput demand.
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