Journal Article

Skilled use of DNA polymorphisms as a tool for polygenic cancers

Kari Hemminki and Peter G. Shields

in Carcinogenesis

Volume 23, issue 3, pages 379-380
Published in print March 2002 | ISSN: 0143-3334
Published online March 2002 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/23.3.379
Skilled use of DNA polymorphisms as a tool for polygenic cancers

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  • Clinical Cytogenetics and Molecular Genetics

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Association studies are assumed to be an efficient method of deciding whether a gene or its variant is important for cancer. Sequencing data on 30 000 human genes suggest that an average gene contains one to two single nucleotide polymorphisms (SNP), and high through-put technologies have become available for fast genotyping. Because no functional data are available for most SNPs, the result of the large-scale genotyping effort will be a huge amount of data of unknown biological significance. We discuss here the approaches in study design and reporting that will reduce the spread of false positive data and optimize scientific progress in the genotyping field.

Keywords: SNP, single nucleotide polymorphisms.

Journal Article.  1495 words. 

Subjects: Clinical Cytogenetics and Molecular Genetics

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