There is an estimated 0.1% difference between any two human genomes. The differences occur predominantly outside protein-coding regions and result in, for example, different promoter haplotypes. The generation of a high-resolution human genomic sequence will allow us to investigate the role of genetic variance in common diseases, which tend to be multifactorial with a non-Mendelian inheritance.
Keywords: polymorphism; genetics; disease; haplotype; transcription




