Strategies for genotype generation.
The identification of genomic loci linked to human disease has been greatly facilitated by the evolution of genotyping strategies and techniques. The success of these strategies continues to be based upon clear clinical assessment, accurate sample handling, and careful data management, but also increasingly upon experimental design. Technological advances in the field of genotyping are permitting increasing complex population studies to be performed. An understanding of publicly available genetic variation databases, including an awareness of the limitations of these data, and an appreciation of the strategic approaches that should be used to exploit this information will provide tremendous insight for researchers are aiming to utilize this increasingly accessible technology. As single-nucleotide polymorphisms become the mainstay of genetic analyses, it is important that their source, distribution and de novo identification before understood before they are incorporated into genetic linkage and association analyses.
Gregory
Simon
S
Duke University Medical Center, Durham, North Carolina, USA.
Gilbert
John
J
D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005838:Genotype; D006801:Humans; D013048:Specimen Handling