The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping.

摘要

Recently, the interim results of the 1000 Genomes Project were published and revealed that the genome of an apparently healthy individual contains hundreds of potentially harmful, rare variants occurring at various places among thousands of possible different loci. Genetic variants are divided into 3 domains according to their frequency: very rare (< 1%), rare (1%-5%) and common variants (> 5%). This division is based on the assumption that the rarer a variant, the more strongly selected out of the gene pool. This selection pressure is due to a substantially reduced reproductive fitness that is associated with the phenotype caused by this variant.