Mutational profiling in the human genome.

Abstract

Prior to its completion as an initial draft in 2000 (Lander et al. 2001), and a finished entity in 2003 (Dunham etal. 1999; Hattori et al. 2000; Deloukas et al. 2001; Heiliget al. 2003; Hillier et al. 2003; Mungall et al. 2003;Skaletsky et al. 2003), the human genome sequence offered many promises for the advancement of biologicalresearch and the improvement of human health care. Current efforts are largely aimed at comprehensive analysisand annotation of genes and other functional elementscontained within the sequence. These efforts include algorithmic approaches to gene discovery and characterization, as well as comparative genome sequencing that willutilize conserved elements in other mammalian and vertebrate genomes to highlight human sequences of functional importance. Every new genome sequenced and every optimization of gene-finding software willincrementally improve our view of the human genomelandscape...