The discovery of single-nucleotide polymorphisms--and inferences about human demographic history.

ABSTRACT: A method of historical inference that accounts for ascertainment bias is developed and applied to single-nucleotide polymorphism (SNP) data in humans. The data consist of 84 short fragments of the genome that were selected, from three recent SNP surveys, to contain at least two polymorphisms in their respective ascertainment samples and that were then fully resequenced in 47 globally distributed individuals. Ascertainment bias is the deviation, from what would be observed in a random sample, caused either by discovery of polymorphisms in small samples or by locus selection based on levels or patterns of polymorphism. The three SNP surveys from which the present data were derived differ both in their protocols for ascertainment and in the size of the samples used for discovery. We implement

SUBMITTER: Wakeley J 

PROVIDER: S-EPMC1235544 | biostudies-literature | 2001 Dec

REPOSITORIES: biostudies-literature