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Topic: SNP-L revitalized

Bert Gold
Member

posted 05-08-2007 06:36 PM

Many human mutations are single nucleotide polymorphisms (SNPs). The current version of the human HapMap contains almost 4 million SNPs and there are currently about 5.7 million validated human SNPs with a dbSNP ID (rs number). This amounts to approximately one every five hundred sequenced base pairs. Yet, only a small percentage of these SNPs provide a basis for hereditary disease etiology. This list is concerned with SNPs,
including methods to discover, validate, characterize, resequence, and determine their frequency in human and animal populations. Listmembers are expected to be actively engaged in genetic characterization and disease association with SNPs. In addition to the topics mentioned above, posts are welcomed concerning the population genetics of SNPs, including departures from Hardy-Weinberg equilibrium and linkage disequilibria. Methods to gauge the accuracy of SNP genotyping will be discussed. The implications of inaccurate genotypes for statistical analysis are explictly part of this discussion. Population stratification can confound genetic association studies. Discussions of corrections for population
stratification are central to the research dialog. Many biostatisticians consider corrections for multiple testing to be pertinent to SNP association studies. A continuing dialogue involves this controversial issue. Discussions concerning SNP management software, analysis tools and genotyping platforms are especially welcome, as is methods discussion.

ELSI (Ethical, Legal, and Social Implications) issues will occasionally be aired, but are not the central focus of this technical list.

You can sign up for the list on the SNP-L webpage which is:
http://list.nih.gov/archives/snp-l.html

or by writing to me at:

goldb@ncifcrf.gov

Bert Gold, Ph.D., FACMG
Staff Scientist
The National Cancer Institute
at Frederick
Frederick, Maryland, USA

IP: 129.43.13.116

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