Human genome, sequence variation

The International SNP Map Working Group 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001 409 928-933. 

Sachidanandam, R., et al., "A Map of Human Genome Sequence Variation Containing 1. Million Single Nucleotide Polymorphisms," Nature, 409, 928-933 (2001). 

Reich DE, Schaffner SF, Daly MJ et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet 2002 32 135-142. 

Studying variation in human genomic sequences may serve two general purposes to characterize genetic population structure and its history and to elucidate the genotype/phenotype relationship in individuals or families. Both aspects are strongly interdependent, and it is only with the advent of new methods of individual sequencing on a mass scale that they become technically feasible. 

As the sequencing of the human genome draws near to completion, it has become evident that there is substantial variation in DNA sequoice between any two individuals at many points throughout the genome. Sequence variation most... 

The functions of a large proportion of the proteins encoded by the human genome are presently unknown. Recent advances in bioinformatics permit researchers to compare amino acid sequences to discover clues to potential properties, physiologic roles, and mechanisms of action of proteins. Algorithms exploit the tendency of nature to employ variations of a structural theme to perform similar functions in several proteins (eg, the Rossmarm nucleotide binding fold to bind NAD(P)H,... 

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