Mutational profiling in the human genome.

Cold Spring Harb Symp Quant Biol. 2003;68:23-9.


Prior to its completion as an initial draft in 2000 (Lander et al. 2001), and a finished entity in 2003 (Dunham et al. 1999; Hattori et al. 2000; Deloukas et al. 2001; Heilig et 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 biological research and the improvement of human health care. Current efforts are largely aimed at comprehensive analysis and annotation of genes and other functional elements contained within the sequence. These efforts include algorithmic approaches to gene discovery and characterization, as well as comparative genome sequencing that will utilize 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 will incrementally improve our view of the human genome landscape.


Wilson RK, Ley TJ, Cole FS, Milbrandt JD, Clifton S, Fulton L, Fewell G, Minx P, Sun H, McLellan M, Pohl C, Mardis ER.