Initial sequencing and analysis of the human genome

[摘要] The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.

[关键词] OLFACTORY RECEPTOR GENES;HIGH-FREQUENCY RETROTRANSPOSITION;COMPLETE NUCLEOTIDE-SEQUENCE;WILLIAMS-BEUREN-SYNDROME;DNA REGULATORY MOTIFS;SMALL NUCLEAR-RNA;LOW-COPY REPEATS;PHYSICAL MAP;CODON USAGE;LINKAGE DISEQUILIBRIUM