Highly Parallel SNP Genotyping

TLDR

The genetic factors underlying common disease are largely unknown, yet the discovery of millions of SNPs provides an unprecedented opportunity to associate genes with phenotypes via large-scale genotyping studies. Discovery of disease‑causing genes will transform our knowledge of the genetic contribution to human disease, lead to new genetic screens, and underpin research into new cures and improved lifestyles. The sequencing of the human genome has catalyzed efforts to search for disease genes by associating sequence variants with measurable phenotypes. The Human Genome Project and subsequent efforts have identified millions of single‑nucleotide polymorphisms. References include Patil et al.

Abstract

The genetic factors underlying common disease arelargely unknown. Discovery of disease-causing genes willtransform our knowledge of the genetic contribution tohuman disease, lead to new genetic screens, and underpinresearch into new cures and improved lifestyles. The sequencing of the human genome has catalyzed efforts tosearch for disease genes by the strategy of associating sequence variants with measurable phenotypes. In particular, the Human Genome Project and follow-on efforts tocharacterize genetic variation have resulted in the discovery of millions of single-nucleotide polymorphisms(SNPs) (Patil et al. 2001; Sachidanandam et al. 2001;Reich et al. 2003). This represents a significant fraction ofcommon genetic variation in the human genome and creates an unprecedented opportunity to associate genes withphenotypes via large-scale SNP genotyping studies...